Linked Data
ClinVar Variation Id:
1200874
ClinVar RCV Id:
RCV001566020
dbSNP Id:
rs3062651
gnomAD v2:
12-103288207-TA-T
gnomAD v3:
12-102894429-TA-T
gnomAD v4:
12-102894429-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894441del , CM000674.2:g.102894441del | GRCh38 |
| NC_000012.11:g.103288219del , CM000674.1:g.103288219del | GRCh37 |
| NC_000012.10:g.101812349del | NCBI36 |
| NG_008690.1:g.28173del | |
| NG_008690.2:g.68981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.352+305del MANE Select | ENSP00000448059.1:n.352+305del | |
| ENST00000307000.7:c.337+305del | ENSP00000303500.2:n.337+305del | |
| ENST00000548928.1:n.274+305del | ||
| ENST00000549111.5:n.448+305del | ||
| ENST00000550978.6:c.336+305del | ||
| ENST00000551337.5:c.352+305del | ENSP00000447620.1:n.352+305del | |
| ENST00000551988.5:n.441+305del | ||
| ENST00000553106.5:c.352+305del | ENSP00000448059.1:n.352+305del | |
| NM_000277.1:c.352+305del | NP_000268.1:n.352+305del | |
| XM_011538422.1:c.352+305del | XP_011536724.1:n.352+305del | |
| NM_000277.2:c.352+305del | NP_000268.1:n.352+305del | |
| NM_001354304.1:c.352+305del | NP_001341233.1:n.352+305del | |
| XM_017019370.2:c.352+305del | XP_016874859.1:n.352+305del | |
| NM_000277.3:c.352+305del MANE Select | NP_000268.1:n.352+305del | |
| NM_001354304.2:c.352+305del | NP_001341233.1:n.352+305del |