Linked Data
ClinVar Variation Id:
2816272
ClinVar RCV Id:
RCV003599098
dbSNP Id:
rs2148438648
gnomAD v4:
1-23848634-GAAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848640_23848644del , CM000663.2:g.23848640_23848644del | GRCh38 |
| NC_000001.10:g.24175130_24175134del , CM000663.1:g.24175130_24175134del | GRCh37 |
| NC_000001.9:g.24047717_24047721del | NCBI36 |
| NG_013346.1:g.24731_24735del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1160+10_1160+14del MANE Select | ENSP00000363603.3:n.1160+10_1160+14del | |
| ENST00000374479.3:c.1160+10_1160+14del | ENSP00000363603.3:n.1160+10_1160+14del | |
| NM_000147.4:c.1160+10_1160+14del | NP_000138.2:n.1160+10_1160+14del | |
| XM_005245821.1:c.785+10_785+14del | XP_005245878.1:n.785+10_785+14del | |
| XM_011541167.1:c.527+10_527+14del | XP_011539469.1:n.527+10_527+14del | |
| XM_005245821.3:c.785+10_785+14del | XP_005245878.1:n.785+10_785+14del | |
| XM_011541167.3:c.527+10_527+14del | XP_011539469.1:n.527+10_527+14del | |
| XM_017000905.2:c.857+10_857+14del | XP_016856394.1:n.857+10_857+14del | |
| NM_000147.5:c.1160+10_1160+14del MANE Select | NP_000138.2:n.1160+10_1160+14del | |
| NR_174379.1:n.1338+10_1338+14del | ||
| NR_174380.1:n.1387+10_1387+14del | ||
| NR_174381.1:n.1226+10_1226+14del | ||
| NR_174382.1:n.1623+10_1623+14del |