Linked Data
ClinVar Variation Id:
2034644
ClinVar RCV Id:
RCV002868042
dbSNP Id:
rs764143976
ExAC:
11:17408825 G / GA
gnomAD v2:
11-17408825-G-GA
gnomAD v4:
11-17387278-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387278_17387279insA , CM000673.2:g.17387278_17387279insA | GRCh38 |
| NC_000011.9:g.17408825_17408826insA , CM000673.1:g.17408825_17408826insA | GRCh37 |
| NC_000011.8:g.17365401_17365402insA | NCBI36 |
| NG_012446.1:g.6381_6382insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.552_553insT | ENSP00000508090.1:p.Pro185SerfsTer? | |
| ENST00000682764.1:c.552_553insT | ENSP00000506780.1:p.Pro185SerfsTer? | |
| ENST00000339994.5:c.813_814insT MANE Select | ENSP00000345708.4:p.Pro272SerfsTer? | |
| ENST00000339994.4:c.813_814insT | ENSP00000345708.4:p.Pro272SerfsTer? | |
| ENST00000528731.1:c.552_553insT | ENSP00000434755.1:p.Pro185SerfsTer? | |
| NM_000525.3:c.813_814insT | NP_000516.3:p.Pro272SerfsTer? | |
| NM_001166290.1:c.552_553insT | NP_001159762.1:p.Pro185SerfsTer? | |
| XM_006718226.2:c.552_553insT | XP_006718289.1:p.Pro185SerfsTer? | |
| XR_930867.1:n.971_972insT | ||
| XM_006718226.3:c.552_553insT | XP_006718289.1:p.Pro185SerfsTer? | |
| XM_017017680.1:c.552_553insT | XP_016873169.1:p.Pro185SerfsTer? | |
| NM_001166290.2:c.552_553insT | NP_001159762.1:p.Pro185SerfsTer? | |
| NM_001377296.1:c.552_553insT | NP_001364225.1:p.Pro185SerfsTer? | |
| NM_001377297.1:c.552_553insT | NP_001364226.1:p.Pro185SerfsTer? | |
| NM_000525.4:c.813_814insT MANE Select | NP_000516.3:p.Pro272SerfsTer? |