Linked Data
dbSNP Id:
rs777826220
ExAC:
1:197062174 ATACT / A
gnomAD v2:
1-197062174-ATACT-A
gnomAD v3:
1-197093044-ATACT-A
gnomAD v4:
1-197093044-ATACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093049_197093052del , CM000663.2:g.197093049_197093052del | GRCh38 |
| NC_000001.10:g.197062179_197062182del , CM000663.1:g.197062179_197062182del | GRCh37 |
| NC_000001.9:g.195328802_195328805del | NCBI36 |
| NG_015867.1:g.58647_58650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2581+4_2581+7del | ||
| ENST00000367409.9:c.9294+4_9294+7del | ||
| ENST00000680265.1:c.9516+4_9516+7del | ||
| ENST00000680710.1:c.9294+4_9294+7del | ||
| ENST00000294732.11:c.4539+4_4539+7del | ||
| ENST00000367408.5:c.2289+4_2289+7del | ||
| ENST00000367409.8:c.9294+4_9294+7del | ||
| ENST00000612785.1:c.3252+4_3252+7del | ||
| NM_001206846.1:c.4539+4_4539+7del | ||
| NM_018136.4:c.9294+4_9294+7del | ||
| NM_018136.5:c.9294+4_9294+7del | ||
| NM_001206846.2:c.4539+4_4539+7del |