Linked Data
dbSNP Id:
rs1822991456
gnomAD v3:
8-86632938-CGAAAGACCACTAT-C
gnomAD v4:
8-86632938-CGAAAGACCACTAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632939_86632951del , CM000670.2:g.86632939_86632951del | GRCh38 |
| NC_000008.10:g.87645167_87645179del , CM000670.1:g.87645167_87645179del | GRCh37 |
| NC_000008.9:g.87714283_87714295del | NCBI36 |
| NG_016980.1:g.115725_115737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1179-58_1179-46del MANE Select | ENSP00000316605.5:n.1179-58_1179-46del | |
| ENST00000681546.1:n.999-58_999-46del | ||
| ENST00000681746.1:c.1179-58_1179-46del | ENSP00000505959.1:n.1179-58_1179-46del | |
| ENST00000320005.5:c.1179-58_1179-46del | ENSP00000316605.5:n.1179-58_1179-46del | |
| NM_019098.4:c.1179-58_1179-46del | NP_061971.3:n.1179-58_1179-46del | |
| XM_011517138.1:c.765-58_765-46del | XP_011515440.1:n.765-58_765-46del | |
| XM_011517138.2:c.765-58_765-46del | XP_011515440.1:n.765-58_765-46del | |
| NM_019098.5:c.1179-58_1179-46del MANE Select | NP_061971.3:n.1179-58_1179-46del |