Linked Data
gnomAD v2:
6-116914132-G-GTTT
gnomAD v3:
6-116592969-G-GTTT
gnomAD v4:
6-116592969-G-GTTT
MyVariant Identifiers:
chr6:g.116914132_116914133insTTT (hg19)
chr6:g.116592969_116592970insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592969_116592970insTTT , CM000668.2:g.116592969_116592970insTTT | GRCh38 |
| NC_000006.11:g.116914132_116914133insTTT , CM000668.1:g.116914132_116914133insTTT | GRCh37 |
| NC_000006.10:g.117020825_117020826insTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-11_611-10insTTT MANE Select | ENSP00000420357.2:n.611-11_611-10insTTT | |
| ENST00000466444.6:c.611-11_611-10insTTT | ENSP00000420357.2:n.611-11_611-10insTTT | |
| ENST00000487832.6:c.323-11_323-10insTTT | ENSP00000428778.1:n.323-11_323-10insTTT | |
| NM_001007464.2:c.323-11_323-10insTTT | NP_001007465.1:n.323-11_323-10insTTT | |
| NM_015952.3:c.611-11_611-10insTTT | NP_057036.2:n.611-11_611-10insTTT | |
| NM_016104.3:c.323-11_323-10insTTT | NP_057188.2:n.323-11_323-10insTTT | |
| NM_015952.4:c.611-11_611-10insTTT MANE Select | NP_057036.2:n.611-11_611-10insTTT | |
| NM_001007464.3:c.323-11_323-10insTTT | NP_001007465.1:n.323-11_323-10insTTT | |
| NM_016104.4:c.323-11_323-10insTTT | NP_057188.2:n.323-11_323-10insTTT |