UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177248178A= | CA1603498120 | NSD1 | c.3625-3A= (n.3625-3A=) n.4081-3A= c.4189-3A= (n.4189-3A=) n.3895-3A= n.4645-3A= c.4498-3A= (n.4498-3A=) c.3691-3A= (n.3691-3A=) c.-9-3A= (n.-9-3A=) c.4078-3A= (n.4078-3A=) c.3442-3A= (n.3442-3A=) c.232-3A= (n.232-3A=) | |
| 5 | g.177248178A>G | CA294892 | NSD1 | c.3625-3A>G (n.3625-3A>G) n.4081-3A>G c.4189-3A>G (n.4189-3A>G) n.3895-3A>G n.4645-3A>G c.4498-3A>G (n.4498-3A>G) c.3691-3A>G (n.3691-3A>G) c.-9-3A>G (n.-9-3A>G) c.4078-3A>G (n.4078-3A>G) c.3442-3A>G (n.3442-3A>G) c.232-3A>G (n.232-3A>G) | ClinVar dbSNP |
| 5 | g.177248179A>C | CA362349380 | NSD1 | c.3625-2A>C (n.3625-2A>C) n.4081-2A>C c.4189-2A>C (n.4189-2A>C) n.3895-2A>C n.4645-2A>C c.4498-2A>C (n.4498-2A>C) c.3691-2A>C (n.3691-2A>C) c.-9-2A>C (n.-9-2A>C) c.4078-2A>C (n.4078-2A>C) c.3442-2A>C (n.3442-2A>C) c.232-2A>C (n.232-2A>C) | |
| 5 | g.177248179A>G | CA362349381 | NSD1 | c.3625-2A>G (n.3625-2A>G) n.4081-2A>G c.4189-2A>G (n.4189-2A>G) n.3895-2A>G n.4645-2A>G c.4498-2A>G (n.4498-2A>G) c.3691-2A>G (n.3691-2A>G) c.-9-2A>G (n.-9-2A>G) c.4078-2A>G (n.4078-2A>G) c.3442-2A>G (n.3442-2A>G) c.232-2A>G (n.232-2A>G) | |
| 5 | g.177248179A>T | CA362349382 | NSD1 | c.3625-2A>T (n.3625-2A>T) n.4081-2A>T c.4189-2A>T (n.4189-2A>T) n.3895-2A>T n.4645-2A>T c.4498-2A>T (n.4498-2A>T) c.3691-2A>T (n.3691-2A>T) c.-9-2A>T (n.-9-2A>T) c.4078-2A>T (n.4078-2A>T) c.3442-2A>T (n.3442-2A>T) c.232-2A>T (n.232-2A>T) | |
| 5 | g.177248180G>A | CA362349385 | NSD1 | c.3625-1G>A (n.3625-1G>A) n.4081-1G>A c.4189-1G>A (n.4189-1G>A) n.3895-1G>A n.4645-1G>A c.4498-1G>A (n.4498-1G>A) c.3691-1G>A (n.3691-1G>A) c.-9-1G>A (n.-9-1G>A) c.4078-1G>A (n.4078-1G>A) c.3442-1G>A (n.3442-1G>A) c.232-1G>A (n.232-1G>A) | |
| 5 | g.177248180G>C | CA362349384 | NSD1 | c.3625-1G>C (n.3625-1G>C) n.4081-1G>C c.4189-1G>C (n.4189-1G>C) n.3895-1G>C n.4645-1G>C c.4498-1G>C (n.4498-1G>C) c.3691-1G>C (n.3691-1G>C) c.-9-1G>C (n.-9-1G>C) c.4078-1G>C (n.4078-1G>C) c.3442-1G>C (n.3442-1G>C) c.232-1G>C (n.232-1G>C) | |
| 5 | g.177248180G>T | CA362349383 | NSD1 | c.3625-1G>T (n.3625-1G>T) n.4081-1G>T c.4189-1G>T (n.4189-1G>T) n.3895-1G>T n.4645-1G>T c.4498-1G>T (n.4498-1G>T) c.3691-1G>T (n.3691-1G>T) c.-9-1G>T (n.-9-1G>T) c.4078-1G>T (n.4078-1G>T) c.3442-1G>T (n.3442-1G>T) c.232-1G>T (n.232-1G>T) | |
| 5 | g.177248181G>A | CA362349386 | NSD1 | c.3625G>A (p.Gly1209Arg) n.4081G>A c.4189G>A (p.Gly1397Arg) n.3895G>A n.4645G>A c.4498G>A (p.Gly1500Arg) c.3691G>A (p.Gly1231Arg) c.-9G>A (n.-9G>A) c.4078G>A (p.Gly1360Arg) c.3442G>A (p.Gly1148Arg) c.232G>A (p.Gly78Arg) | |
| 5 | g.177248181G>C | CA362349387 | NSD1 | c.3625G>C (p.Gly1209Arg) n.4081G>C c.4189G>C (p.Gly1397Arg) n.3895G>C n.4645G>C c.4498G>C (p.Gly1500Arg) c.3691G>C (p.Gly1231Arg) c.-9G>C (n.-9G>C) c.4078G>C (p.Gly1360Arg) c.3442G>C (p.Gly1148Arg) c.232G>C (p.Gly78Arg) | |
| 5 | g.177248181G>T | CA362349388 | NSD1 | c.3625G>T (p.Gly1209Ter) n.4081G>T c.4189G>T (p.Gly1397Ter) n.3895G>T n.4645G>T c.4498G>T (p.Gly1500Ter) c.3691G>T (p.Gly1231Ter) c.-9G>T (n.-9G>T) c.4078G>T (p.Gly1360Ter) c.3442G>T (p.Gly1148Ter) c.232G>T (p.Gly78Ter) | |
| 5 | g.177248182G>A | CA362349389 | NSD1 | c.3626G>A (p.Gly1209Glu) n.4082G>A c.4190G>A (p.Gly1397Glu) n.3896G>A n.4646G>A c.4499G>A (p.Gly1500Glu) c.3692G>A (p.Gly1231Glu) c.-8G>A (n.-8G>A) c.4079G>A (p.Gly1360Glu) c.3443G>A (p.Gly1148Glu) c.233G>A (p.Gly78Glu) | |
| 5 | g.177248182G>C | CA362349390 | NSD1 | c.3626G>C (p.Gly1209Ala) n.4082G>C c.4190G>C (p.Gly1397Ala) n.3896G>C n.4646G>C c.4499G>C (p.Gly1500Ala) c.3692G>C (p.Gly1231Ala) c.-8G>C (n.-8G>C) c.4079G>C (p.Gly1360Ala) c.3443G>C (p.Gly1148Ala) c.233G>C (p.Gly78Ala) | |
| 5 | g.177248182G>T | CA362349391 | NSD1 | c.3626G>T (p.Gly1209Val) n.4082G>T c.4190G>T (p.Gly1397Val) n.3896G>T n.4646G>T c.4499G>T (p.Gly1500Val) c.3692G>T (p.Gly1231Val) c.-8G>T (n.-8G>T) c.4079G>T (p.Gly1360Val) c.3443G>T (p.Gly1148Val) c.233G>T (p.Gly78Val) | |
| 5 | g.177248183A>C | CA447725567 | NSD1 | c.3627A>C (p.Gly1209=) n.4083A>C c.4191A>C (p.Gly1397=) n.3897A>C n.4647A>C c.4500A>C (p.Gly1500=) c.3693A>C (p.Gly1231=) c.-7A>C (n.-7A>C) c.4080A>C (p.Gly1360=) c.3444A>C (p.Gly1148=) c.234A>C (p.Gly78=) | |
| 5 | g.177248183A>G | CA447725568 | NSD1 | c.3627A>G (p.Gly1209=) n.4083A>G c.4191A>G (p.Gly1397=) n.3897A>G n.4647A>G c.4500A>G (p.Gly1500=) c.3693A>G (p.Gly1231=) c.-7A>G (n.-7A>G) c.4080A>G (p.Gly1360=) c.3444A>G (p.Gly1148=) c.234A>G (p.Gly78=) | |
| 5 | g.177248183A>T | CA447725569 | NSD1 | c.3627A>T (p.Gly1209=) n.4083A>T c.4191A>T (p.Gly1397=) n.3897A>T n.4647A>T c.4500A>T (p.Gly1500=) c.3693A>T (p.Gly1231=) c.-7A>T (n.-7A>T) c.4080A>T (p.Gly1360=) c.3444A>T (p.Gly1148=) c.234A>T (p.Gly78=) | |
| 5 | g.177248184G>A | CA362349392 | NSD1 | c.3628G>A (p.Glu1210Lys) n.4084G>A c.4192G>A (p.Glu1398Lys) n.3898G>A n.4648G>A c.4501G>A (p.Glu1501Lys) c.3694G>A (p.Glu1232Lys) c.-6G>A (n.-6G>A) c.4081G>A (p.Glu1361Lys) c.3445G>A (p.Glu1149Lys) c.235G>A (p.Glu79Lys) | ClinVar |
| 5 | g.177248184G>C | CA362349395 | NSD1 | c.3628G>C (p.Glu1210Gln) n.4084G>C c.4192G>C (p.Glu1398Gln) n.3898G>C n.4648G>C c.4501G>C (p.Glu1501Gln) c.3694G>C (p.Glu1232Gln) c.-6G>C (n.-6G>C) c.4081G>C (p.Glu1361Gln) c.3445G>C (p.Glu1149Gln) c.235G>C (p.Glu79Gln) | |
| 5 | g.177248184G>T | CA362349394 | NSD1 | c.3628G>T (p.Glu1210Ter) n.4084G>T c.4192G>T (p.Glu1398Ter) n.3898G>T n.4648G>T c.4501G>T (p.Glu1501Ter) c.3694G>T (p.Glu1232Ter) c.-6G>T (n.-6G>T) c.4081G>T (p.Glu1361Ter) c.3445G>T (p.Glu1149Ter) c.235G>T (p.Glu79Ter) | |
| 5 | g.177248185A= | CA1603498128 | NSD1 | c.3629A= (p.Glu1210=) n.4085A= c.4193A= (p.Glu1398=) n.3899A= n.4649A= c.4502A= (p.Glu1501=) c.3695A= (p.Glu1232=) c.-5A= (n.-5A=) c.4082A= (p.Glu1361=) c.3446A= (p.Glu1149=) c.236A= (p.Glu79=) | |
| 5 | g.177248185A>C | CA362349398 | NSD1 | c.3629A>C (p.Glu1210Ala) n.4085A>C c.4193A>C (p.Glu1398Ala) n.3899A>C n.4649A>C c.4502A>C (p.Glu1501Ala) c.3695A>C (p.Glu1232Ala) c.-5A>C (n.-5A>C) c.4082A>C (p.Glu1361Ala) c.3446A>C (p.Glu1149Ala) c.236A>C (p.Glu79Ala) | |
| 5 | g.177248185A>G | CA132860329 | NSD1 | c.3629A>G (p.Glu1210Gly) n.4085A>G c.4193A>G (p.Glu1398Gly) n.3899A>G n.4649A>G c.4502A>G (p.Glu1501Gly) c.3695A>G (p.Glu1232Gly) c.-5A>G (n.-5A>G) c.4082A>G (p.Glu1361Gly) c.3446A>G (p.Glu1149Gly) c.236A>G (p.Glu79Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177248185A>T | CA362349402 | NSD1 | c.3629A>T (p.Glu1210Val) n.4085A>T c.4193A>T (p.Glu1398Val) n.3899A>T n.4649A>T c.4502A>T (p.Glu1501Val) c.3695A>T (p.Glu1232Val) c.-5A>T (n.-5A>T) c.4082A>T (p.Glu1361Val) c.3446A>T (p.Glu1149Val) c.236A>T (p.Glu79Val) | |
| 5 | g.177248186A>C | CA362349405 | NSD1 | c.3630A>C (p.Glu1210Asp) n.4086A>C c.4194A>C (p.Glu1398Asp) n.3900A>C n.4650A>C c.4503A>C (p.Glu1501Asp) c.3696A>C (p.Glu1232Asp) c.-4A>C (n.-4A>C) c.4083A>C (p.Glu1361Asp) c.3447A>C (p.Glu1149Asp) c.237A>C (p.Glu79Asp) | |
| 5 | g.177248186A>G | CA447725570 | NSD1 | c.3630A>G (p.Glu1210=) n.4086A>G c.4194A>G (p.Glu1398=) n.3900A>G n.4650A>G c.4503A>G (p.Glu1501=) c.3696A>G (p.Glu1232=) c.-4A>G (n.-4A>G) c.4083A>G (p.Glu1361=) c.3447A>G (p.Glu1149=) c.237A>G (p.Glu79=) | |
| 5 | g.177248186A>T | CA362349407 | NSD1 | c.3630A>T (p.Glu1210Asp) n.4086A>T c.4194A>T (p.Glu1398Asp) n.3900A>T n.4650A>T c.4503A>T (p.Glu1501Asp) c.3696A>T (p.Glu1232Asp) c.-4A>T (n.-4A>T) c.4083A>T (p.Glu1361Asp) c.3447A>T (p.Glu1149Asp) c.237A>T (p.Glu79Asp) | |
| 5 | g.177248187C>A | CA362349409 | NSD1 | c.3631C>A (p.Leu1211Ile) n.4087C>A c.4195C>A (p.Leu1399Ile) n.3901C>A n.4651C>A c.4504C>A (p.Leu1502Ile) c.3697C>A (p.Leu1233Ile) c.-3C>A (n.-3C>A) c.4084C>A (p.Leu1362Ile) c.3448C>A (p.Leu1150Ile) c.238C>A (p.Leu80Ile) | gnomAD v4 |
| 5 | g.177248187C= | CA1603498134 | NSD1 | c.3631C= (p.Leu1211=) n.4087C= c.4195C= (p.Leu1399=) n.3901C= n.4651C= c.4504C= (p.Leu1502=) c.3697C= (p.Leu1233=) c.-3C= (n.-3C=) c.4084C= (p.Leu1362=) c.3448C= (p.Leu1150=) c.238C= (p.Leu80=) | |
| 5 | g.177248187C>G | CA362349411 | NSD1 | c.3631C>G (p.Leu1211Val) n.4087C>G c.4195C>G (p.Leu1399Val) n.3901C>G n.4651C>G c.4504C>G (p.Leu1502Val) c.3697C>G (p.Leu1233Val) c.-3C>G (n.-3C>G) c.4084C>G (p.Leu1362Val) c.3448C>G (p.Leu1150Val) c.238C>G (p.Leu80Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177248187C>T | CA447725571 | NSD1 | c.3631C>T (p.Leu1211=) n.4087C>T c.4195C>T (p.Leu1399=) n.3901C>T n.4651C>T c.4504C>T (p.Leu1502=) c.3697C>T (p.Leu1233=) c.-3C>T (n.-3C>T) c.4084C>T (p.Leu1362=) c.3448C>T (p.Leu1150=) c.238C>T (p.Leu80=) | |
| 5 | g.177248188T>A | CA362349413 | NSD1 | c.3632T>A (p.Leu1211Gln) n.4088T>A c.4196T>A (p.Leu1399Gln) n.3902T>A n.4652T>A c.4505T>A (p.Leu1502Gln) c.3698T>A (p.Leu1233Gln) c.-2T>A (n.-2T>A) c.4085T>A (p.Leu1362Gln) c.3449T>A (p.Leu1150Gln) c.239T>A (p.Leu80Gln) | |
| 5 | g.177248188T>C | CA362349415 | NSD1 | c.3632T>C (p.Leu1211Pro) n.4088T>C c.4196T>C (p.Leu1399Pro) n.3902T>C n.4652T>C c.4505T>C (p.Leu1502Pro) c.3698T>C (p.Leu1233Pro) c.-2T>C (n.-2T>C) c.4085T>C (p.Leu1362Pro) c.3449T>C (p.Leu1150Pro) c.239T>C (p.Leu80Pro) | |
| 5 | g.177248188T>G | CA362349417 | NSD1 | c.3632T>G (p.Leu1211Arg) n.4088T>G c.4196T>G (p.Leu1399Arg) n.3902T>G n.4652T>G c.4505T>G (p.Leu1502Arg) c.3698T>G (p.Leu1233Arg) c.-2T>G (n.-2T>G) c.4085T>G (p.Leu1362Arg) c.3449T>G (p.Leu1150Arg) c.239T>G (p.Leu80Arg) | |
| 5 | g.177248189A>C | CA447725572 | NSD1 | c.3633A>C (p.Leu1211=) n.4089A>C c.4197A>C (p.Leu1399=) n.3903A>C n.4653A>C c.4506A>C (p.Leu1502=) c.3699A>C (p.Leu1233=) c.-1A>C (n.-1A>C) c.4086A>C (p.Leu1362=) c.3450A>C (p.Leu1150=) c.240A>C (p.Leu80=) | |
| 5 | g.177248189A>G | CA447725574 | NSD1 | c.3633A>G (p.Leu1211=) n.4089A>G c.4197A>G (p.Leu1399=) n.3903A>G n.4653A>G c.4506A>G (p.Leu1502=) c.3699A>G (p.Leu1233=) c.-1A>G (n.-1A>G) c.4086A>G (p.Leu1362=) c.3450A>G (p.Leu1150=) c.240A>G (p.Leu80=) | gnomAD v4 |
| 5 | g.177248189A>T | CA447725573 | NSD1 | c.3633A>T (p.Leu1211=) n.4089A>T c.4197A>T (p.Leu1399=) n.3903A>T n.4653A>T c.4506A>T (p.Leu1502=) c.3699A>T (p.Leu1233=) c.-1A>T (n.-1A>T) c.4086A>T (p.Leu1362=) c.3450A>T (p.Leu1150=) c.240A>T (p.Leu80=) | |
| 5 | g.177248190del | CA2711095449 | NSD1 | c.3634del (p.Met1212CysfsTer17) n.4090del c.4198del (p.Met1400CysfsTer17) n.3904del n.4654del c.4507del (p.Met1503CysfsTer17) c.3700del (p.Met1234CysfsTer17) c.1del (p.Met1CysfsTer17) c.4087del (p.Met1363CysfsTer17) c.3451del (p.Met1151CysfsTer17) c.241del (p.Met81CysfsTer17) | dbSNP |
| 5 | g.177248190A>C | CA362349419 | NSD1 | c.3634A>C (p.Met1212Leu) n.4090A>C c.4198A>C (p.Met1400Leu) n.3904A>C n.4654A>C c.4507A>C (p.Met1503Leu) c.3700A>C (p.Met1234Leu) c.1A>C (p.Met1Leu) c.4087A>C (p.Met1363Leu) c.3451A>C (p.Met1151Leu) c.241A>C (p.Met81Leu) | |
| 5 | g.177248190A>G | CA362349423 | NSD1 | c.3634A>G (p.Met1212Val) n.4090A>G c.4198A>G (p.Met1400Val) n.3904A>G n.4654A>G c.4507A>G (p.Met1503Val) c.3700A>G (p.Met1234Val) c.1A>G (p.Met1Val) c.4087A>G (p.Met1363Val) c.3451A>G (p.Met1151Val) c.241A>G (p.Met81Val) | |
| 5 | g.177248190A>T | CA362349421 | NSD1 | c.3634A>T (p.Met1212Leu) n.4090A>T c.4198A>T (p.Met1400Leu) n.3904A>T n.4654A>T c.4507A>T (p.Met1503Leu) c.3700A>T (p.Met1234Leu) c.1A>T (p.Met1Leu) c.4087A>T (p.Met1363Leu) c.3451A>T (p.Met1151Leu) c.241A>T (p.Met81Leu) | |
| 5 | g.177248191T>A | CA362349426 | NSD1 | c.3635T>A (p.Met1212Lys) n.4091T>A c.4199T>A (p.Met1400Lys) n.3905T>A n.4655T>A c.4508T>A (p.Met1503Lys) c.3701T>A (p.Met1234Lys) c.2T>A (p.Met1Lys) c.4088T>A (p.Met1363Lys) c.3452T>A (p.Met1151Lys) c.242T>A (p.Met81Lys) | COSMIC COSMIC |
| 5 | g.177248191T>C | CA362349430 | NSD1 | c.3635T>C (p.Met1212Thr) n.4091T>C c.4199T>C (p.Met1400Thr) n.3905T>C n.4655T>C c.4508T>C (p.Met1503Thr) c.3701T>C (p.Met1234Thr) c.2T>C (p.Met1Thr) c.4088T>C (p.Met1363Thr) c.3452T>C (p.Met1151Thr) c.242T>C (p.Met81Thr) | |
| 5 | g.177248191T>G | CA362349428 | NSD1 | c.3635T>G (p.Met1212Arg) n.4091T>G c.4199T>G (p.Met1400Arg) n.3905T>G n.4655T>G c.4508T>G (p.Met1503Arg) c.3701T>G (p.Met1234Arg) c.2T>G (p.Met1Arg) c.4088T>G (p.Met1363Arg) c.3452T>G (p.Met1151Arg) c.242T>G (p.Met81Arg) | ClinVar gnomAD v4 |
| 5 | g.177248192G>A | CA3577662 | NSD1 | c.3636G>A (p.Met1212Ile) n.4092G>A c.4200G>A (p.Met1400Ile) n.3906G>A n.4656G>A c.4509G>A (p.Met1503Ile) c.3702G>A (p.Met1234Ile) c.3G>A (p.Met1Ile) c.4089G>A (p.Met1363Ile) c.3453G>A (p.Met1151Ile) c.243G>A (p.Met81Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177248192G>C | CA362349437 | NSD1 | c.3636G>C (p.Met1212Ile) n.4092G>C c.4200G>C (p.Met1400Ile) n.3906G>C n.4656G>C c.4509G>C (p.Met1503Ile) c.3702G>C (p.Met1234Ile) c.3G>C (p.Met1Ile) c.4089G>C (p.Met1363Ile) c.3453G>C (p.Met1151Ile) c.243G>C (p.Met81Ile) | |
| 5 | g.177248192G= | CA1603498141 | NSD1 | c.3636G= (p.Met1212=) n.4092G= c.4200G= (p.Met1400=) n.3906G= n.4656G= c.4509G= (p.Met1503=) c.3702G= (p.Met1234=) c.3G= (p.Met1=) c.4089G= (p.Met1363=) c.3453G= (p.Met1151=) c.243G= (p.Met81=) | |
| 5 | g.177248192G>T | CA362349435 | NSD1 | c.3636G>T (p.Met1212Ile) n.4092G>T c.4200G>T (p.Met1400Ile) n.3906G>T n.4656G>T c.4509G>T (p.Met1503Ile) c.3702G>T (p.Met1234Ile) c.3G>T (p.Met1Ile) c.4089G>T (p.Met1363Ile) c.3453G>T (p.Met1151Ile) c.243G>T (p.Met81Ile) | ClinVar |
| 5 | g.177248193C>A | CA362349440 | NSD1 | c.3637C>A (p.Pro1213Thr) n.4093C>A c.4201C>A (p.Pro1401Thr) n.3907C>A n.4657C>A c.4510C>A (p.Pro1504Thr) c.3703C>A (p.Pro1235Thr) c.4C>A (p.Pro2Thr) c.4090C>A (p.Pro1364Thr) c.3454C>A (p.Pro1152Thr) c.244C>A (p.Pro82Thr) | |
| 5 | g.177248193C= | CA1603498148 | NSD1 | c.3637C= (p.Pro1213=) n.4093C= c.4201C= (p.Pro1401=) n.3907C= n.4657C= c.4510C= (p.Pro1504=) c.3703C= (p.Pro1235=) c.4C= (p.Pro2=) c.4090C= (p.Pro1364=) c.3454C= (p.Pro1152=) c.244C= (p.Pro82=) |