Linked Data
ClinVar Variation Id:
1494001
ClinVar RCV Id:
RCV002012786
dbSNP Id:
rs1169173848
gnomAD v2:
4-155665779-GTTA-G
gnomAD v4:
4-154744627-GTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744630_154744632del , CM000666.2:g.154744630_154744632del | GRCh38 |
| NC_000004.11:g.155665782_155665784del , CM000666.1:g.155665782_155665784del | GRCh37 |
| NC_000004.10:g.155885232_155885234del | NCBI36 |
| NG_009110.1:g.5620_5622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.304_306del MANE Select | ENSP00000337224.3:p.Ile102del | |
| ENST00000336356.3:c.304_306del | ENSP00000337224.3:p.Ile102del | |
| ENST00000499392.1:n.472-3559_472-3557del | ||
| ENST00000507827.5:c.304_306del | ENSP00000426761.1:p.Ile102del | |
| ENST00000510733.1:n.631_633del | ||
| NM_001301645.1:c.304_306del | NP_001288574.1:p.Ile102del | |
| NM_004744.4:c.304_306del | NP_004735.2:p.Ile102del | |
| XM_006714412.2:c.304_306del | XP_006714475.1:p.Ile102del | |
| XR_938793.1:n.640_642del | ||
| XR_938793.2:n.636_638del | ||
| NM_004744.5:c.304_306del MANE Select | NP_004735.2:p.Ile102del | |
| NM_001301645.2:c.304_306del | NP_001288574.1:p.Ile102del |