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 |
|---|---|---|---|---|---|
| 17 | g.50193842_50194094delinsCACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGG | CA2263917892 | COL1A1 | c.1668+36_1767+101delinsCCTGTCTGCCTCCCTGCTGTCCTCACTGCTGCTTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCCCACCTGGTGCCCGTGGTCAGGCTGGTGTGATGGGATTCCCTGGACCTAAAGGTGCTGCTGTGAGTATTAAGTGAGGATCCATGAAGAGCCAGGGACAAACACACCTGAGACTTGAAGGAGTCCTGGGCTCTGGGCTCAGCTGTGCCGCTGACCTGCCGTG n.58+36_258delinsCCTGTCTGCCTCCCTGCTGTCCTCACTGCTGCTTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCCCACCTGGTGCCCGTGGTCAGGCTGGTGTGATGGGATTCCCTGGACCTAAAGGTGCTGCTGTGAGTATTAAGTGAGGATCCATGAAGAGCCAGGGACAAACACACCTGAGACTTGAAGGAGTCCTGGGCTCTGGGCTCAGCTGTGCCGCTGACCTGCCGTG n.648_900delinsCCTGTCTGCCTCCCTGCTGTCCTCACTGCTGCTTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCCCACCTGGTGCCCGTGGTCAGGCTGGTGTGATGGGATTCCCTGGACCTAAAGGTGCTGCTGTGAGTATTAAGTGAGGATCCATGAAGAGCCAGGGACAAACACACCTGAGACTTGAAGGAGTCCTGGGCTCTGGGCTCAGCTGTGCCGCTGACCTGCCGTG c.958-1401_958-1149delinsCCTGTCTGCCTCCCTGCTGTCCTCACTGCTGCTTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCCCACCTGGTGCCCGTGGTCAGGCTGGTGTGATGGGATTCCCTGGACCTAAAGGTGCTGCTGTGAGTATTAAGTGAGGATCCATGAAGAGCCAGGGACAAACACACCTGAGACTTGAAGGAGTCCTGGGCTCTGGGCTCAGCTGTGCCGCTGACCTGCCGTG (n.958-1401_958-1149delinsCCTGTCTGCCTCCCTGCTGTCCTCACTGCTGCTTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCCCACCTGGTGCCCGTGGTCAGGCTGGTGTGATGGGATTCCCTGGACCTAAAGGTGCTGCTGTGAGTATTAAGTGAGGATCCATGAAGAGCCAGGGACAAACACACCTGAGACTTGAAGGAGTCCTGGGCTCTGGGCTCAGCTGTGCCGCTGACCTGCCGTG) c.1470+36_1569+101delinsCCTGTCTGCCTCCCTGCTGTCCTCACTGCTGCTTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCCCACCTGGTGCCCGTGGTCAGGCTGGTGTGATGGGATTCCCTGGACCTAAAGGTGCTGCTGTGAGTATTAAGTGAGGATCCATGAAGAGCCAGGGACAAACACACCTGAGACTTGAAGGAGTCCTGGGCTCTGGGCTCAGCTGTGCCGCTGACCTGCCGTG | |
| 17 | g.50193845_50194096del | CA913012762 | COL1A1 | c.1668+36_1767+100del n.58+36_257del n.648_899del c.958-1401_958-1150del (n.958-1401_958-1150del) c.1470+36_1569+100del | dbSNP |
| 17 | g.50194005C>A | CA400215432 | COL1A1 | c.1705G>T (p.Gly569Cys) n.95G>T n.737G>T n.54G>T c.958-1312G>T (n.958-1312G>T) c.1507G>T (p.Gly503Cys) | |
| 17 | g.50194005C= | CA2263917961 | COL1A1 | c.1705G= (p.Gly569=) n.95G= n.737G= n.54G= c.958-1312G= (n.958-1312G=) c.1507G= (p.Gly503=) | |
| 17 | g.50194005C>G | CA257815 | COL1A1 | c.1705G>C (p.Gly569Arg) n.95G>C n.737G>C n.54G>C c.958-1312G>C (n.958-1312G>C) c.1507G>C (p.Gly503Arg) | ClinVar dbSNP |
| 17 | g.50194005C>T | CA400215433 | COL1A1 | c.1705G>A (p.Gly569Ser) n.95G>A n.737G>A n.54G>A c.958-1312G>A (n.958-1312G>A) c.1507G>A (p.Gly503Ser) | COSMIC |
| 17 | g.50194006T>A | CA500848502 | COL1A1 | c.1704A>T (p.Pro568=) n.94A>T n.736A>T n.53A>T c.958-1313A>T (n.958-1313A>T) c.1506A>T (p.Pro502=) | |
| 17 | g.50194006T>C | CA500848503 | COL1A1 | c.1704A>G (p.Pro568=) n.94A>G n.736A>G n.53A>G c.958-1313A>G (n.958-1313A>G) c.1506A>G (p.Pro502=) | |
| 17 | g.50194006T>G | CA500848504 | COL1A1 | c.1704A>C (p.Pro568=) n.94A>C n.736A>C n.53A>C c.958-1313A>C (n.958-1313A>C) c.1506A>C (p.Pro502=) | |
| 17 | g.50194006_50194007delinsTG | CA2263917962 | COL1A1 | c.1703_1704delinsCA (p.Pro568=) n.93_94delinsCA n.735_736delinsCA n.52_53delinsCA c.958-1314_958-1313delinsCA (n.958-1314_958-1313delinsCA) c.1505_1506delinsCA (p.Pro502=) | |
| 17 | g.50194007G>A | CA400215434 | COL1A1 | c.1703C>T (p.Pro568Leu) n.93C>T n.735C>T n.52C>T c.958-1314C>T (n.958-1314C>T) c.1505C>T (p.Pro502Leu) | |
| 17 | g.50194007G>C | CA400215435 | COL1A1 | c.1703C>G (p.Pro568Arg) n.93C>G n.735C>G n.52C>G c.958-1314C>G (n.958-1314C>G) c.1505C>G (p.Pro502Arg) | |
| 17 | g.50194007G>T | CA400215436 | COL1A1 | c.1703C>A (p.Pro568Gln) n.93C>A n.735C>A n.52C>A c.958-1314C>A (n.958-1314C>A) c.1505C>A (p.Pro502Gln) | |
| 17 | g.50194011del | CA658798895 | COL1A1 | c.1703del (p.Pro568GlnfsTer12) n.93del n.735del n.52del c.958-1314del (n.958-1314del) c.1505del (p.Pro502GlnfsTer12) | ClinVar dbSNP |
| 17 | g.50194008G>A | CA400215438 | COL1A1 | c.1702C>T (p.Pro568Ser) n.92C>T n.734C>T n.51C>T c.958-1315C>T (n.958-1315C>T) c.1504C>T (p.Pro502Ser) | gnomAD v4 |
| 17 | g.50194008G>C | CA400215440 | COL1A1 | c.1702C>G (p.Pro568Ala) n.92C>G n.734C>G n.51C>G c.958-1315C>G (n.958-1315C>G) c.1504C>G (p.Pro502Ala) | |
| 17 | g.50194008G>T | CA400215443 | COL1A1 | c.1702C>A (p.Pro568Thr) n.92C>A n.734C>A n.51C>A c.958-1315C>A (n.958-1315C>A) c.1504C>A (p.Pro502Thr) | |
| 17 | g.50194009G>A | CA500848508 | COL1A1 | c.1701C>T (p.Pro567=) n.91C>T n.733C>T n.50C>T c.958-1316C>T (n.958-1316C>T) c.1503C>T (p.Pro501=) | |
| 17 | g.50194009G>C | CA500848507 | COL1A1 | c.1701C>G (p.Pro567=) n.91C>G n.733C>G n.50C>G c.958-1316C>G (n.958-1316C>G) c.1503C>G (p.Pro501=) | gnomAD v4 |
| 17 | g.50194009G>T | CA500848506 | COL1A1 | c.1701C>A (p.Pro567=) n.91C>A n.733C>A n.50C>A c.958-1316C>A (n.958-1316C>A) c.1503C>A (p.Pro501=) | |
| 17 | g.50194010G>A | CA400215446 | COL1A1 | c.1700C>T (p.Pro567Leu) n.90C>T n.732C>T n.49C>T c.958-1317C>T (n.958-1317C>T) c.1502C>T (p.Pro501Leu) | |
| 17 | g.50194010G>C | CA400215450 | COL1A1 | c.1700C>G (p.Pro567Arg) n.90C>G n.732C>G n.49C>G c.958-1317C>G (n.958-1317C>G) c.1502C>G (p.Pro501Arg) | |
| 17 | g.50194010G>T | CA400215449 | COL1A1 | c.1700C>A (p.Pro567His) n.90C>A n.732C>A n.49C>A c.958-1317C>A (n.958-1317C>A) c.1502C>A (p.Pro501His) | |
| 17 | g.50194011G>A | CA400215455 | COL1A1 | c.1699C>T (p.Pro567Ser) n.89C>T n.731C>T n.48C>T c.958-1318C>T (n.958-1318C>T) c.1501C>T (p.Pro501Ser) | |
| 17 | g.50194011G>C | CA400215457 | COL1A1 | c.1699C>G (p.Pro567Ala) n.89C>G n.731C>G n.48C>G c.958-1318C>G (n.958-1318C>G) c.1501C>G (p.Pro501Ala) | |
| 17 | g.50194011G>T | CA400215458 | COL1A1 | c.1699C>A (p.Pro567Thr) n.89C>A n.731C>A n.48C>A c.958-1318C>A (n.958-1318C>A) c.1501C>A (p.Pro501Thr) | |
| 17 | g.50194012T>A | CA500848512 | COL1A1 | c.1698A>T (p.Gly566=) n.88A>T n.730A>T n.47A>T c.958-1319A>T (n.958-1319A>T) c.1500A>T (p.Gly500=) | |
| 17 | g.50194012T>C | CA500848513 | COL1A1 | c.1698A>G (p.Gly566=) n.88A>G n.730A>G n.47A>G c.958-1319A>G (n.958-1319A>G) c.1500A>G (p.Gly500=) | |
| 17 | g.50194012T>G | CA500848514 | COL1A1 | c.1698A>C (p.Gly566=) n.88A>C n.730A>C n.47A>C c.958-1319A>C (n.958-1319A>C) c.1500A>C (p.Gly500=) | |
| 17 | g.50194013C>A | CA400215462 | COL1A1 | c.1697G>T (p.Gly566Val) n.87G>T n.729G>T n.46G>T c.958-1320G>T (n.958-1320G>T) c.1499G>T (p.Gly500Val) | COSMIC |
| 17 | g.50194013C>G | CA400215465 | COL1A1 | c.1697G>C (p.Gly566Ala) n.87G>C n.729G>C n.46G>C c.958-1320G>C (n.958-1320G>C) c.1499G>C (p.Gly500Ala) | |
| 17 | g.50194013C>T | CA400215467 | COL1A1 | c.1697G>A (p.Gly566Glu) n.87G>A n.729G>A n.46G>A c.958-1320G>A (n.958-1320G>A) c.1499G>A (p.Gly500Glu) | |
| 17 | g.50194014C>A | CA400215468 | COL1A1 | c.1696G>T (p.Gly566Ter) n.86G>T n.728G>T n.45G>T c.958-1321G>T (n.958-1321G>T) c.1498G>T (p.Gly500Ter) | |
| 17 | g.50194014C= | CA2263917963 | COL1A1 | c.1696G= (p.Gly566=) n.86G= n.728G= n.45G= c.958-1321G= (n.958-1321G=) c.1498G= (p.Gly500=) | |
| 17 | g.50194014C>G | CA291545036 | COL1A1 | c.1696G>C (p.Gly566Arg) n.86G>C n.728G>C n.45G>C c.958-1321G>C (n.958-1321G>C) c.1498G>C (p.Gly500Arg) | dbSNP |
| 17 | g.50194014C>T | CA291545032 | COL1A1 | c.1696G>A (p.Gly566Arg) n.86G>A n.728G>A n.45G>A c.958-1321G>A (n.958-1321G>A) c.1498G>A (p.Gly500Arg) | ClinVar dbSNP |
| 17 | g.50194015G>A | CA8645132 | COL1A1 | c.1695C>T (p.Pro565=) n.85C>T n.727C>T n.44C>T c.958-1322C>T (n.958-1322C>T) c.1497C>T (p.Pro499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50194015G>C | CA500848518 | COL1A1 | c.1695C>G (p.Pro565=) n.85C>G n.727C>G n.44C>G c.958-1322C>G (n.958-1322C>G) c.1497C>G (p.Pro499=) | |
| 17 | g.50194015G= | CA2263917964 | COL1A1 | c.1695C= (p.Pro565=) n.85C= n.727C= n.44C= c.958-1322C= (n.958-1322C=) c.1497C= (p.Pro499=) | |
| 17 | g.50194015G>T | CA500848517 | COL1A1 | c.1695C>A (p.Pro565=) n.85C>A n.727C>A n.44C>A c.958-1322C>A (n.958-1322C>A) c.1497C>A (p.Pro499=) | |
| 17 | g.50194015_50194016delinsAA | CA645569635 | COL1A1 | c.1694_1695delinsTT (p.Pro565Leu) n.84_85delinsTT n.726_727delinsTT n.43_44delinsTT c.958-1323_958-1322delinsTT (n.958-1323_958-1322delinsTT) c.1496_1497delinsTT (p.Pro499Leu) | COSMIC |
| 17 | g.50194018del | CA2580094410 | COL1A1 | c.1695del (p.Gly566AspfsTer14) n.85del n.727del n.44del c.958-1322del (n.958-1322del) c.1497del (p.Gly500AspfsTer14) | ClinVar |
| 17 | g.50194016G>A | CA8645133 | COL1A1 | c.1694C>T (p.Pro565Leu) n.84C>T n.726C>T n.43C>T c.958-1323C>T (n.958-1323C>T) c.1496C>T (p.Pro499Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50194016G>C | CA400215474 | COL1A1 | c.1694C>G (p.Pro565Arg) n.84C>G n.726C>G n.43C>G c.958-1323C>G (n.958-1323C>G) c.1496C>G (p.Pro499Arg) | |
| 17 | g.50194016G= | CA2263917965 | COL1A1 | c.1694C= (p.Pro565=) n.84C= n.726C= n.43C= c.958-1323C= (n.958-1323C=) c.1496C= (p.Pro499=) | |
| 17 | g.50194016G>T | CA400215470 | COL1A1 | c.1694C>A (p.Pro565His) n.84C>A n.726C>A n.43C>A c.958-1323C>A (n.958-1323C>A) c.1496C>A (p.Pro499His) | |
| 17 | g.50194017G>A | CA8645134 | COL1A1 | c.1693C>T (p.Pro565Ser) n.83C>T n.725C>T n.42C>T c.958-1324C>T (n.958-1324C>T) c.1495C>T (p.Pro499Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50194017G>C | CA400215484 | COL1A1 | c.1693C>G (p.Pro565Ala) n.83C>G n.725C>G n.42C>G c.958-1324C>G (n.958-1324C>G) c.1495C>G (p.Pro499Ala) | |
| 17 | g.50194017G= | CA2263917966 | COL1A1 | c.1693C= (p.Pro565=) n.83C= n.725C= n.42C= c.958-1324C= (n.958-1324C=) c.1495C= (p.Pro499=) | |
| 17 | g.50194017G>T | CA400215486 | COL1A1 | c.1693C>A (p.Pro565Thr) n.83C>A n.725C>A n.42C>A c.958-1324C>A (n.958-1324C>A) c.1495C>A (p.Pro499Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |