Linked Data
ClinVar Variation Id:
210967
dbSNP Id:
rs797045568
gnomAD v3:
7-148809078-C-CA
gnomAD v4:
7-148809078-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148809084dup , CM000669.2:g.148809084dup | GRCh38 |
| NC_000007.13:g.148506176dup , CM000669.1:g.148506176dup | GRCh37 |
| NC_000007.12:g.148137109dup | NCBI36 |
| NG_032043.1:g.80271dup , LRG_531:g.80271dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4087dup | ||
| ENST00000682317.1:c.*1249dup | ENSP00000508286.1:n.*1249dup | |
| ENST00000683292.1:c.*1083dup | ENSP00000507503.1:n.*1083dup | |
| ENST00000683293.1:n.3906dup | ||
| ENST00000683744.1:c.*1249dup | ENSP00000506949.1:n.*1249dup | |
| ENST00000684300.1:c.*1249dup | ENSP00000508407.1:n.*1249dup | |
| ENST00000684400.1:n.4174dup | ||
| ENST00000684436.1:n.2503dup | ||
| ENST00000684510.1:n.2565dup | ||
| ENST00000320356.7:c.2187dup MANE Select | ENSP00000320147.2:p.Asp730Ter | |
| ENST00000320356.6:c.2187dup | ENSP00000320147.2:p.Asp730Ter | |
| ENST00000350995.6:c.2055dup | ENSP00000223193.2:p.Asp686Ter | |
| ENST00000460911.5:c.2172dup | ENSP00000419711.1:p.Asp725Ter | |
| ENST00000476773.5:c.2019dup | ENSP00000419050.1:p.Asp674Ter | |
| ENST00000478654.5:c.2019dup | ENSP00000417062.1:p.Asp674Ter | |
| ENST00000483967.5:c.2145dup | ENSP00000419856.1:p.Asp716Ter | |
| ENST00000492143.5:c.*2177dup | ENSP00000417377.1:n.*2177dup | |
| NM_001203247.1:c.2172dup | NP_001190176.1:p.Asp725Ter | |
| NM_001203248.1:c.2145dup | NP_001190177.1:p.Asp716Ter | |
| NM_001203249.1:c.2019dup | NP_001190178.1:p.Asp674Ter | |
| NM_004456.4:c.2187dup , LRG_531t1:c.2187dup | NP_004447.2:p.Asp730Ter | |
| NM_152998.2:c.2055dup | NP_694543.1:p.Asp686Ter | |
| XM_005249962.3:c.2196dup | XP_005250019.1:p.Asp733Ter | |
| XM_005249963.3:c.2169dup | XP_005250020.1:p.Asp724Ter | |
| XM_005249964.3:c.2043dup | XP_005250021.1:p.Asp682Ter | |
| XM_011515883.1:c.2211dup | XP_011514185.1:p.Asp738Ter | |
| XM_011515884.1:c.2187dup | XP_011514186.1:p.Asp730Ter | |
| XM_011515885.1:c.2184dup | XP_011514187.1:p.Asp729Ter | |
| XM_011515886.1:c.2163dup | XP_011514188.1:p.Asp722Ter | |
| XM_011515887.1:c.2160dup | XP_011514189.1:p.Asp721Ter | |
| XM_011515888.1:c.2160dup | XP_011514190.1:p.Asp721Ter | |
| XM_011515889.1:c.2121dup | XP_011514191.1:p.Asp708Ter | |
| XM_011515890.1:c.2094dup | XP_011514192.1:p.Asp699Ter | |
| XM_011515891.1:c.2088dup | XP_011514193.1:p.Asp697Ter | |
| XM_011515892.1:c.2085dup | XP_011514194.1:p.Asp696Ter | |
| XM_011515893.1:c.2079dup | XP_011514195.1:p.Asp694Ter | |
| XM_011515894.1:c.2070dup | XP_011514196.1:p.Asp691Ter | |
| XM_011515895.1:c.2067dup | XP_011514197.1:p.Asp690Ter | |
| XM_011515896.1:c.1953dup | XP_011514198.1:p.Asp652Ter | |
| XM_011515897.1:c.1860dup | XP_011514199.1:p.Asp621Ter | |
| XM_011515898.1:c.1860dup | XP_011514200.1:p.Asp621Ter | |
| XR_928101.1:n.515+3999dup | ||
| XR_928102.1:n.722+3999dup | ||
| XM_005249962.4:c.2196dup | XP_005250019.1:p.Asp733Ter | |
| XM_005249963.4:c.2169dup | XP_005250020.1:p.Asp724Ter | |
| XM_005249964.4:c.2043dup | XP_005250021.1:p.Asp682Ter | |
| XM_011515883.2:c.2211dup | XP_011514185.1:p.Asp738Ter | |
| XM_011515884.2:c.2187dup | XP_011514186.1:p.Asp730Ter | |
| XM_011515885.2:c.2184dup | XP_011514187.1:p.Asp729Ter | |
| XM_011515886.2:c.2163dup | XP_011514188.1:p.Asp722Ter | |
| XM_011515887.3:c.2160dup | XP_011514189.1:p.Asp721Ter | |
| XM_011515888.2:c.2160dup | XP_011514190.1:p.Asp721Ter | |
| XM_011515889.2:c.2121dup | XP_011514191.1:p.Asp708Ter | |
| XM_011515890.2:c.2094dup | XP_011514192.1:p.Asp699Ter | |
| XM_011515891.3:c.2088dup | XP_011514193.1:p.Asp697Ter | |
| XM_011515892.2:c.2085dup | XP_011514194.1:p.Asp696Ter | |
| XM_011515893.2:c.2079dup | XP_011514195.1:p.Asp694Ter | |
| XM_011515894.2:c.2070dup | XP_011514196.1:p.Asp691Ter | |
| XM_011515895.2:c.2067dup | XP_011514197.1:p.Asp690Ter | |
| XM_011515896.2:c.1953dup | XP_011514198.1:p.Asp652Ter | |
| XM_011515897.2:c.1860dup | XP_011514199.1:p.Asp621Ter | |
| XM_011515898.2:c.1860dup | XP_011514200.1:p.Asp621Ter | |
| XM_017011817.2:c.2211dup | XP_016867306.1:p.Asp738Ter | |
| XM_017011818.1:c.2148dup | XP_016867307.1:p.Asp717Ter | |
| XM_017011819.1:c.2070dup | XP_016867308.1:p.Asp691Ter | |
| XM_017011820.2:c.2043dup | XP_016867309.1:p.Asp682Ter | |
| XM_017011821.1:c.1845dup | XP_016867310.1:p.Asp616Ter | |
| XM_024446680.1:c.2073dup | XP_024302448.1:p.Asp692Ter | |
| XR_001744581.1:n.4561dup | ||
| XR_002956413.1:n.5217dup | ||
| XR_002956414.1:n.5677dup | ||
| NM_001203247.2:c.2172dup | NP_001190176.1:p.Asp725Ter | |
| NM_001203248.2:c.2145dup | NP_001190177.1:p.Asp716Ter | |
| NM_001203249.2:c.2019dup | NP_001190178.1:p.Asp674Ter | |
| NM_004456.5:c.2187dup MANE Select | NP_004447.2:p.Asp730Ter | |
| NM_152998.3:c.2055dup | NP_694543.1:p.Asp686Ter |