Linked Data
gnomAD v2:
6-116914129-G-GTTTTTTTTTTT
gnomAD v3:
6-116592966-G-GTTTTTTTTTTT
gnomAD v4:
6-116592966-G-GTTTTTTTTTTT
MyVariant Identifiers:
chr6:g.116914129_116914130insTTTTTTTTTTT (hg19)
chr6:g.116592966_116592967insTTTTTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592968_116592969insTTTTTTTTTTT , CM000668.2:g.116592968_116592969insTTTTTTTTTTT | GRCh38 |
| NC_000006.11:g.116914131_116914132insTTTTTTTTTTT , CM000668.1:g.116914131_116914132insTTTTTTTTTTT | GRCh37 |
| NC_000006.10:g.117020824_117020825insTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-12_611-11insTTTTTTTTTTT MANE Select | ENSP00000420357.2:n.611-12_611-11insTTTTTTTTTTT | |
| ENST00000466444.6:c.611-12_611-11insTTTTTTTTTTT | ENSP00000420357.2:n.611-12_611-11insTTTTTTTTTTT | |
| ENST00000487832.6:c.323-12_323-11insTTTTTTTTTTT | ENSP00000428778.1:n.323-12_323-11insTTTTTTTTTTT | |
| NM_001007464.2:c.323-12_323-11insTTTTTTTTTTT | NP_001007465.1:n.323-12_323-11insTTTTTTTTTTT | |
| NM_015952.3:c.611-12_611-11insTTTTTTTTTTT | NP_057036.2:n.611-12_611-11insTTTTTTTTTTT | |
| NM_016104.3:c.323-12_323-11insTTTTTTTTTTT | NP_057188.2:n.323-12_323-11insTTTTTTTTTTT | |
| NM_015952.4:c.611-12_611-11insTTTTTTTTTTT MANE Select | NP_057036.2:n.611-12_611-11insTTTTTTTTTTT | |
| NM_001007464.3:c.323-12_323-11insTTTTTTTTTTT | NP_001007465.1:n.323-12_323-11insTTTTTTTTTTT | |
| NM_016104.4:c.323-12_323-11insTTTTTTTTTTT | NP_057188.2:n.323-12_323-11insTTTTTTTTTTT |