Linked Data
dbSNP Id:
rs1348090562
gnomAD v2:
6-116914097-ATAAGAC-A
gnomAD v3:
6-116592934-ATAAGAC-A
gnomAD v4:
6-116592934-ATAAGAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592938_116592943del , CM000668.2:g.116592938_116592943del | GRCh38 |
| NC_000006.11:g.116914101_116914106del , CM000668.1:g.116914101_116914106del | GRCh37 |
| NC_000006.10:g.117020794_117020799del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-42_611-37del MANE Select | ENSP00000420357.2:n.611-42_611-37del | |
| ENST00000466444.6:c.611-42_611-37del | ENSP00000420357.2:n.611-42_611-37del | |
| ENST00000487832.6:c.323-42_323-37del | ENSP00000428778.1:n.323-42_323-37del | |
| NM_001007464.2:c.323-42_323-37del | NP_001007465.1:n.323-42_323-37del | |
| NM_015952.3:c.611-42_611-37del | NP_057036.2:n.611-42_611-37del | |
| NM_016104.3:c.323-42_323-37del | NP_057188.2:n.323-42_323-37del | |
| NM_015952.4:c.611-42_611-37del MANE Select | NP_057036.2:n.611-42_611-37del | |
| NM_001007464.3:c.323-42_323-37del | NP_001007465.1:n.323-42_323-37del | |
| NM_016104.4:c.323-42_323-37del | NP_057188.2:n.323-42_323-37del |