Linked Data
ClinVar Variation Id:
430907
dbSNP Id:
rs773694113
ExAC:
4:103504086 A / AT
gnomAD v2:
4-103504086-A-AT
gnomAD v3:
4-102582929-A-AT
gnomAD v4:
4-102582929-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102582934dup , CM000666.2:g.102582934dup | GRCh38 |
| NC_000004.11:g.103504091dup , CM000666.1:g.103504091dup | GRCh37 |
| NC_000004.10:g.103723129dup | NCBI36 |
| NG_050628.1:g.86606dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.928dup | ENSP00000426147.2:p.Ser310PhefsTer7 | |
| ENST00000509165.2:c.904dup | ENSP00000423877.2:p.Ser302PhefsTer7 | |
| ENST00000697794.1:c.*545dup | ENSP00000513443.1:n.*545dup | |
| ENST00000697799.1:n.401dup | ||
| ENST00000697800.1:n.115dup | ||
| ENST00000226574.9:c.904dup MANE Select | ENSP00000226574.4:p.Ser302PhefsTer7 | |
| ENST00000652569.1:c.880dup | ||
| ENST00000652619.1:c.925dup | ENSP00000499031.1:p.Ser309PhefsTer7 | |
| ENST00000226574.8:c.904dup | ENSP00000226574.4:p.Ser302PhefsTer7 | |
| ENST00000394820.8:c.901dup | ENSP00000378297.4:p.Ser301PhefsTer7 | |
| ENST00000505458.5:c.901dup | ENSP00000424790.1:p.Ser301PhefsTer7 | |
| ENST00000508584.1:c.283dup | ENSP00000424815.1:p.Ser95PhefsTer7 | |
| ENST00000600343.5:c.361dup | ENSP00000469340.1:p.Ser121PhefsTer7 | |
| NM_001165412.1:c.901dup | NP_001158884.1:p.Ser301PhefsTer7 | |
| NM_003998.3:c.904dup | NP_003989.2:p.Ser302PhefsTer7 | |
| XM_011532006.1:c.925dup | XP_011530308.1:p.Ser309PhefsTer7 | |
| XM_011532007.1:c.901dup | XP_011530309.1:p.Ser301PhefsTer7 | |
| XM_011532008.1:c.745dup | XP_011530310.1:p.Ser249PhefsTer7 | |
| XM_011532009.1:c.508dup | XP_011530311.1:p.Ser170PhefsTer7 | |
| NM_001319226.1:c.901dup | NP_001306155.1:p.Ser301PhefsTer7 | |
| XM_011532006.2:c.925dup | XP_011530308.1:p.Ser309PhefsTer7 | |
| XM_024454067.1:c.928dup | XP_024309835.1:p.Ser310PhefsTer7 | |
| XM_024454068.1:c.904dup | XP_024309836.1:p.Ser302PhefsTer7 | |
| XM_024454069.1:c.769dup | XP_024309837.1:p.Ser257PhefsTer7 | |
| NM_003998.4:c.904dup MANE Select | NP_003989.2:p.Ser302PhefsTer7 | |
| NM_001165412.2:c.901dup | NP_001158884.1:p.Ser301PhefsTer7 | |
| NM_001319226.2:c.901dup | NP_001306155.1:p.Ser301PhefsTer7 | |
| NM_001382625.1:c.904dup | NP_001369554.1:p.Ser302PhefsTer7 | |
| NM_001382626.1:c.904dup | NP_001369555.1:p.Ser302PhefsTer7 | |
| NM_001382627.1:c.901dup | NP_001369556.1:p.Ser301PhefsTer7 | |
| NM_001382628.1:c.862dup | NP_001369557.1:p.Ser288PhefsTer7 |