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 |
|---|---|---|---|---|---|
| 16 | g.1515634_1521302dup | CA2580613358 | IFT140 | c.3454-488_4182+2588dup c.1036-488_1764+2588dup c.*1892-488_*2620+2588dup n.3278-488_4006+2588dup c.1087-488_1815+2588dup c.3208-488_3936+2588dup c.2479-488_3207+2588dup c.1639-488_2367+2588dup | |
| 16 | g.1519144_1521811delinsG | CA658798459 | IFT140 | c.3454-1003_4040+737delinsC c.1036-1003_1622+737delinsC c.*1892-1003_*2478+737delinsC n.3278-1003_3864+737delinsC c.1087-1003_1673+737delinsC c.3208-1003_3794+737delinsC c.2479-1003_3065+737delinsC c.1639-1003_2225+737delinsC | ClinVar |
| 16 | g.1520167del | CA7813025 | IFT140 | c.3838del (p.Asp1280ThrfsTer28) c.1420del (p.Asp474ThrfsTer28) c.*2276del (n.*2276del) n.3662del c.1471del (p.Asp491ThrfsTer28) c.3592del (p.Asp1198ThrfsTer28) c.2863del (p.Asp955ThrfsTer28) c.2023del (p.Asp675ThrfsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520167C>A | CA493031434 | IFT140 | c.3837G>T (p.Leu1279=) c.1419G>T (p.Leu473=) c.*2275G>T (n.*2275G>T) n.3661G>T c.1470G>T (p.Leu490=) c.3591G>T (p.Leu1197=) c.2862G>T (p.Leu954=) c.2022G>T (p.Leu674=) | |
| 16 | g.1520167C>G | CA493031433 | IFT140 | c.3837G>C (p.Leu1279=) c.1419G>C (p.Leu473=) c.*2275G>C (n.*2275G>C) n.3661G>C c.1470G>C (p.Leu490=) c.3591G>C (p.Leu1197=) c.2862G>C (p.Leu954=) c.2022G>C (p.Leu674=) | |
| 16 | g.1520167C>T | CA493031435 | IFT140 | c.3837G>A (p.Leu1279=) c.1419G>A (p.Leu473=) c.*2275G>A (n.*2275G>A) n.3661G>A c.1470G>A (p.Leu490=) c.3591G>A (p.Leu1197=) c.2862G>A (p.Leu954=) c.2022G>A (p.Leu674=) | |
| 16 | g.1520168A>C | CA394224297 | IFT140 | c.3836T>G (p.Leu1279Arg) c.1418T>G (p.Leu473Arg) c.*2274T>G (n.*2274T>G) n.3660T>G c.1469T>G (p.Leu490Arg) c.3590T>G (p.Leu1197Arg) c.2861T>G (p.Leu954Arg) c.2021T>G (p.Leu674Arg) | |
| 16 | g.1520168A>G | CA394224298 | IFT140 | c.3836T>C (p.Leu1279Pro) c.1418T>C (p.Leu473Pro) c.*2274T>C (n.*2274T>C) n.3660T>C c.1469T>C (p.Leu490Pro) c.3590T>C (p.Leu1197Pro) c.2861T>C (p.Leu954Pro) c.2021T>C (p.Leu674Pro) | |
| 16 | g.1520168A>T | CA394224299 | IFT140 | c.3836T>A (p.Leu1279Gln) c.1418T>A (p.Leu473Gln) c.*2274T>A (n.*2274T>A) n.3660T>A c.1469T>A (p.Leu490Gln) c.3590T>A (p.Leu1197Gln) c.2861T>A (p.Leu954Gln) c.2021T>A (p.Leu674Gln) | |
| 16 | g.1520169G>A | CA493031440 | IFT140 | c.3835C>T (p.Leu1279=) c.1417C>T (p.Leu473=) c.*2273C>T (n.*2273C>T) n.3659C>T c.1468C>T (p.Leu490=) c.3589C>T (p.Leu1197=) c.2860C>T (p.Leu954=) c.2020C>T (p.Leu674=) | gnomAD v4 |
| 16 | g.1520169G>C | CA394224301 | IFT140 | c.3835C>G (p.Leu1279Val) c.1417C>G (p.Leu473Val) c.*2273C>G (n.*2273C>G) n.3659C>G c.1468C>G (p.Leu490Val) c.3589C>G (p.Leu1197Val) c.2860C>G (p.Leu954Val) c.2020C>G (p.Leu674Val) | |
| 16 | g.1520169G>T | CA394224300 | IFT140 | c.3835C>A (p.Leu1279Met) c.1417C>A (p.Leu473Met) c.*2273C>A (n.*2273C>A) n.3659C>A c.1468C>A (p.Leu490Met) c.3589C>A (p.Leu1197Met) c.2860C>A (p.Leu954Met) c.2020C>A (p.Leu674Met) | |
| 16 | g.1520170G>A | CA493031443 | IFT140 | c.3834C>T (p.Ala1278=) c.1416C>T (p.Ala472=) c.*2272C>T (n.*2272C>T) n.3658C>T c.1467C>T (p.Ala489=) c.3588C>T (p.Ala1196=) c.2859C>T (p.Ala953=) c.2019C>T (p.Ala673=) | dbSNP |
| 16 | g.1520170G>C | CA493031444 | IFT140 | c.3834C>G (p.Ala1278=) c.1416C>G (p.Ala472=) c.*2272C>G (n.*2272C>G) n.3658C>G c.1467C>G (p.Ala489=) c.3588C>G (p.Ala1196=) c.2859C>G (p.Ala953=) c.2019C>G (p.Ala673=) | |
| 16 | g.1520170G= | CA2201723440 | IFT140 | c.3834C= (p.Ala1278=) c.1416C= (p.Ala472=) c.*2272C= (n.*2272C=) n.3658C= c.1467C= (p.Ala489=) c.3588C= (p.Ala1196=) c.2859C= (p.Ala953=) c.2019C= (p.Ala673=) | |
| 16 | g.1520170G>T | CA493031445 | IFT140 | c.3834C>A (p.Ala1278=) c.1416C>A (p.Ala472=) c.*2272C>A (n.*2272C>A) n.3658C>A c.1467C>A (p.Ala489=) c.3588C>A (p.Ala1196=) c.2859C>A (p.Ala953=) c.2019C>A (p.Ala673=) | |
| 16 | g.1520171G>A | CA394224302 | IFT140 | c.3833C>T (p.Ala1278Val) c.1415C>T (p.Ala472Val) c.*2271C>T (n.*2271C>T) n.3657C>T c.1466C>T (p.Ala489Val) c.3587C>T (p.Ala1196Val) c.2858C>T (p.Ala953Val) c.2018C>T (p.Ala673Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520171G>C | CA394224303 | IFT140 | c.3833C>G (p.Ala1278Gly) c.1415C>G (p.Ala472Gly) c.*2271C>G (n.*2271C>G) n.3657C>G c.1466C>G (p.Ala489Gly) c.3587C>G (p.Ala1196Gly) c.2858C>G (p.Ala953Gly) c.2018C>G (p.Ala673Gly) | |
| 16 | g.1520171G= | CA2201723441 | IFT140 | c.3833C= (p.Ala1278=) c.1415C= (p.Ala472=) c.*2271C= (n.*2271C=) n.3657C= c.1466C= (p.Ala489=) c.3587C= (p.Ala1196=) c.2858C= (p.Ala953=) c.2018C= (p.Ala673=) | |
| 16 | g.1520171G>T | CA276675499 | IFT140 | c.3833C>A (p.Ala1278Asp) c.1415C>A (p.Ala472Asp) c.*2271C>A (n.*2271C>A) n.3657C>A c.1466C>A (p.Ala489Asp) c.3587C>A (p.Ala1196Asp) c.2858C>A (p.Ala953Asp) c.2018C>A (p.Ala673Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520172C>A | CA394224304 | IFT140 | c.3832G>T (p.Ala1278Ser) c.1414G>T (p.Ala472Ser) c.*2270G>T (n.*2270G>T) n.3656G>T c.1465G>T (p.Ala489Ser) c.3586G>T (p.Ala1196Ser) c.2857G>T (p.Ala953Ser) c.2017G>T (p.Ala673Ser) | |
| 16 | g.1520172C>G | CA394224305 | IFT140 | c.3832G>C (p.Ala1278Pro) c.1414G>C (p.Ala472Pro) c.*2270G>C (n.*2270G>C) n.3656G>C c.1465G>C (p.Ala489Pro) c.3586G>C (p.Ala1196Pro) c.2857G>C (p.Ala953Pro) c.2017G>C (p.Ala673Pro) | gnomAD v4 |
| 16 | g.1520172C>T | CA394224306 | IFT140 | c.3832G>A (p.Ala1278Thr) c.1414G>A (p.Ala472Thr) c.*2270G>A (n.*2270G>A) n.3656G>A c.1465G>A (p.Ala489Thr) c.3586G>A (p.Ala1196Thr) c.2857G>A (p.Ala953Thr) c.2017G>A (p.Ala673Thr) | gnomAD v4 |
| 16 | g.1520173C>A | CA493031453 | IFT140 | c.3831G>T (p.Arg1277=) c.1413G>T (p.Arg471=) c.*2269G>T (n.*2269G>T) n.3655G>T c.1464G>T (p.Arg488=) c.3585G>T (p.Arg1195=) c.2856G>T (p.Arg952=) c.2016G>T (p.Arg672=) | |
| 16 | g.1520173C>G | CA493031451 | IFT140 | c.3831G>C (p.Arg1277=) c.1413G>C (p.Arg471=) c.*2269G>C (n.*2269G>C) n.3655G>C c.1464G>C (p.Arg488=) c.3585G>C (p.Arg1195=) c.2856G>C (p.Arg952=) c.2016G>C (p.Arg672=) | |
| 16 | g.1520173C>T | CA493031452 | IFT140 | c.3831G>A (p.Arg1277=) c.1413G>A (p.Arg471=) c.*2269G>A (n.*2269G>A) n.3655G>A c.1464G>A (p.Arg488=) c.3585G>A (p.Arg1195=) c.2856G>A (p.Arg952=) c.2016G>A (p.Arg672=) | |
| 16 | g.1520174C>A | CA394224307 | IFT140 | c.3830G>T (p.Arg1277Leu) c.1412G>T (p.Arg471Leu) c.*2268G>T (n.*2268G>T) n.3654G>T c.1463G>T (p.Arg488Leu) c.3584G>T (p.Arg1195Leu) c.2855G>T (p.Arg952Leu) c.2015G>T (p.Arg672Leu) | |
| 16 | g.1520174C= | CA2201723442 | IFT140 | c.3830G= (p.Arg1277=) c.1412G= (p.Arg471=) c.*2268G= (n.*2268G=) n.3654G= c.1463G= (p.Arg488=) c.3584G= (p.Arg1195=) c.2855G= (p.Arg952=) c.2015G= (p.Arg672=) | |
| 16 | g.1520174C>G | CA394224308 | IFT140 | c.3830G>C (p.Arg1277Pro) c.1412G>C (p.Arg471Pro) c.*2268G>C (n.*2268G>C) n.3654G>C c.1463G>C (p.Arg488Pro) c.3584G>C (p.Arg1195Pro) c.2855G>C (p.Arg952Pro) c.2015G>C (p.Arg672Pro) | gnomAD v4 |
| 16 | g.1520174C>T | CA7813026 | IFT140 | c.3830G>A (p.Arg1277Gln) c.1412G>A (p.Arg471Gln) c.*2268G>A (n.*2268G>A) n.3654G>A c.1463G>A (p.Arg488Gln) c.3584G>A (p.Arg1195Gln) c.2855G>A (p.Arg952Gln) c.2015G>A (p.Arg672Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520175G>A | CA7813027 | IFT140 | c.3829C>T (p.Arg1277Trp) c.1411C>T (p.Arg471Trp) c.*2267C>T (n.*2267C>T) n.3653C>T c.1462C>T (p.Arg488Trp) c.3583C>T (p.Arg1195Trp) c.2854C>T (p.Arg952Trp) c.2014C>T (p.Arg672Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520175G>C | CA394224309 | IFT140 | c.3829C>G (p.Arg1277Gly) c.1411C>G (p.Arg471Gly) c.*2267C>G (n.*2267C>G) n.3653C>G c.1462C>G (p.Arg488Gly) c.3583C>G (p.Arg1195Gly) c.2854C>G (p.Arg952Gly) c.2014C>G (p.Arg672Gly) | |
| 16 | g.1520175G= | CA2201723443 | IFT140 | c.3829C= (p.Arg1277=) c.1411C= (p.Arg471=) c.*2267C= (n.*2267C=) n.3653C= c.1462C= (p.Arg488=) c.3583C= (p.Arg1195=) c.2854C= (p.Arg952=) c.2014C= (p.Arg672=) | |
| 16 | g.1520175G>T | CA493031460 | IFT140 | c.3829C>A (p.Arg1277=) c.1411C>A (p.Arg471=) c.*2267C>A (n.*2267C>A) n.3653C>A c.1462C>A (p.Arg488=) c.3583C>A (p.Arg1195=) c.2854C>A (p.Arg952=) c.2014C>A (p.Arg672=) | |
| 16 | g.1520176C>A | CA493031461 | IFT140 | c.3828G>T (p.Gly1276=) c.1410G>T (p.Gly470=) c.*2266G>T (n.*2266G>T) n.3652G>T c.1461G>T (p.Gly487=) c.3582G>T (p.Gly1194=) c.2853G>T (p.Gly951=) c.2013G>T (p.Gly671=) | |
| 16 | g.1520176C= | CA2201723444 | IFT140 | c.3828G= (p.Gly1276=) c.1410G= (p.Gly470=) c.*2266G= (n.*2266G=) n.3652G= c.1461G= (p.Gly487=) c.3582G= (p.Gly1194=) c.2853G= (p.Gly951=) c.2013G= (p.Gly671=) | |
| 16 | g.1520176C>G | CA7813028 | IFT140 | c.3828G>C (p.Gly1276=) c.1410G>C (p.Gly470=) c.*2266G>C (n.*2266G>C) n.3652G>C c.1461G>C (p.Gly487=) c.3582G>C (p.Gly1194=) c.2853G>C (p.Gly951=) c.2013G>C (p.Gly671=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520176C>T | CA7813029 | IFT140 | c.3828G>A (p.Gly1276=) c.1410G>A (p.Gly470=) c.*2266G>A (n.*2266G>A) n.3652G>A c.1461G>A (p.Gly487=) c.3582G>A (p.Gly1194=) c.2853G>A (p.Gly951=) c.2013G>A (p.Gly671=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520177C>A | CA394224310 | IFT140 | c.3827G>T (p.Gly1276Val) c.1409G>T (p.Gly470Val) c.*2265G>T (n.*2265G>T) n.3651G>T c.1460G>T (p.Gly487Val) c.3581G>T (p.Gly1194Val) c.2852G>T (p.Gly951Val) c.2012G>T (p.Gly671Val) | |
| 16 | g.1520177C= | CA2201723445 | IFT140 | c.3827G= (p.Gly1276=) c.1409G= (p.Gly470=) c.*2265G= (n.*2265G=) n.3651G= c.1460G= (p.Gly487=) c.3581G= (p.Gly1194=) c.2852G= (p.Gly951=) c.2012G= (p.Gly671=) | |
| 16 | g.1520177C>G | CA7813030 | IFT140 | c.3827G>C (p.Gly1276Ala) c.1409G>C (p.Gly470Ala) c.*2265G>C (n.*2265G>C) n.3651G>C c.1460G>C (p.Gly487Ala) c.3581G>C (p.Gly1194Ala) c.2852G>C (p.Gly951Ala) c.2012G>C (p.Gly671Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520177C>T | CA277670 | IFT140 | c.3827G>A (p.Gly1276Glu) c.1409G>A (p.Gly470Glu) c.*2265G>A (n.*2265G>A) n.3651G>A c.1460G>A (p.Gly487Glu) c.3581G>A (p.Gly1194Glu) c.2852G>A (p.Gly951Glu) c.2012G>A (p.Gly671Glu) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
| 16 | g.1520178C>A | CA394224311 | IFT140 | c.3826G>T (p.Gly1276Trp) c.1408G>T (p.Gly470Trp) c.*2264G>T (n.*2264G>T) n.3650G>T c.1459G>T (p.Gly487Trp) c.3580G>T (p.Gly1194Trp) c.2851G>T (p.Gly951Trp) c.2011G>T (p.Gly671Trp) | |
| 16 | g.1520178C= | CA2201723446 | IFT140 | c.3826G= (p.Gly1276=) c.1408G= (p.Gly470=) c.*2264G= (n.*2264G=) n.3650G= c.1459G= (p.Gly487=) c.3580G= (p.Gly1194=) c.2851G= (p.Gly951=) c.2011G= (p.Gly671=) | |
| 16 | g.1520178C>G | CA394224312 | IFT140 | c.3826G>C (p.Gly1276Arg) c.1408G>C (p.Gly470Arg) c.*2264G>C (n.*2264G>C) n.3650G>C c.1459G>C (p.Gly487Arg) c.3580G>C (p.Gly1194Arg) c.2851G>C (p.Gly951Arg) c.2011G>C (p.Gly671Arg) | gnomAD v4 |
| 16 | g.1520178C>T | CA276675508 | IFT140 | c.3826G>A (p.Gly1276Arg) c.1408G>A (p.Gly470Arg) c.*2264G>A (n.*2264G>A) n.3650G>A c.1459G>A (p.Gly487Arg) c.3580G>A (p.Gly1194Arg) c.2851G>A (p.Gly951Arg) c.2011G>A (p.Gly671Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520179C>A | CA394224313 | IFT140 | c.3825G>T (p.Lys1275Asn) c.1407G>T (p.Lys469Asn) c.*2263G>T (n.*2263G>T) n.3649G>T c.1458G>T (p.Lys486Asn) c.3579G>T (p.Lys1193Asn) c.2850G>T (p.Lys950Asn) c.2010G>T (p.Lys670Asn) | |
| 16 | g.1520179C= | CA2201723447 | IFT140 | c.3825G= (p.Lys1275=) c.1407G= (p.Lys469=) c.*2263G= (n.*2263G=) n.3649G= c.1458G= (p.Lys486=) c.3579G= (p.Lys1193=) c.2850G= (p.Lys950=) c.2010G= (p.Lys670=) | |
| 16 | g.1520179C>G | CA394224314 | IFT140 | c.3825G>C (p.Lys1275Asn) c.1407G>C (p.Lys469Asn) c.*2263G>C (n.*2263G>C) n.3649G>C c.1458G>C (p.Lys486Asn) c.3579G>C (p.Lys1193Asn) c.2850G>C (p.Lys950Asn) c.2010G>C (p.Lys670Asn) | |
| 16 | g.1520179C>T | CA493031468 | IFT140 | c.3825G>A (p.Lys1275=) c.1407G>A (p.Lys469=) c.*2263G>A (n.*2263G>A) n.3649G>A c.1458G>A (p.Lys486=) c.3579G>A (p.Lys1193=) c.2850G>A (p.Lys950=) c.2010G>A (p.Lys670=) | dbSNP gnomAD v4 |