Linked Data
ClinVar Variation Id:
2996356
ClinVar RCV Id:
RCV003856507
dbSNP Id:
rs1248291721
gnomAD v4:
2-38071129-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071132_38071133del , CM000664.2:g.38071132_38071133del | GRCh38 |
| NC_000002.11:g.38298275_38298276del , CM000664.1:g.38298275_38298276del | GRCh37 |
| NC_000002.10:g.38151779_38151780del | NCBI36 |
| NG_008386.2:g.9971_9972del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1223_1224del | ENSP00000478839.2:p.Ser408CysfsTer22 | |
| ENST00000610745.5:c.1223_1224del MANE Select | ENSP00000478561.1:p.Ser408CysfsTer22 | |
| ENST00000492443.1:n.601_602del | ||
| ENST00000494864.1:c.110_111del | ENSP00000479876.1:p.Ser37CysfsTer22 | |
| ENST00000610745.4:c.1223_1224del | ENSP00000478561.1:p.Ser408CysfsTer22 | |
| ENST00000614273.1:c.1223_1224del | ENSP00000483678.1:p.Ser408CysfsTer22 | |
| NM_000104.3:c.1223_1224del | NP_000095.2:p.Ser408CysfsTer22 | |
| NM_000104.4:c.1223_1224del MANE Select | NP_000095.2:p.Ser408CysfsTer22 |