Linked Data
gnomAD v2:
6-116914134-C-CTTTTTT
gnomAD v3:
6-116592971-C-CTTTTTT
gnomAD v4:
6-116592971-C-CTTTTTT
MyVariant Identifiers:
chr6:g.116914134_116914135insTTTTTT (hg19)
chr6:g.116592971_116592972insTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592975_116592976insTTTTTT , CM000668.2:g.116592975_116592976insTTTTTT | GRCh38 |
| NC_000006.11:g.116914138_116914139insTTTTTT , CM000668.1:g.116914138_116914139insTTTTTT | GRCh37 |
| NC_000006.10:g.117020831_117020832insTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-5_611-4insTTTTTT MANE Select | ENSP00000420357.2:n.611-5_611-4insTTTTTT | |
| ENST00000466444.6:c.611-5_611-4insTTTTTT | ENSP00000420357.2:n.611-5_611-4insTTTTTT | |
| ENST00000487832.6:c.323-5_323-4insTTTTTT | ENSP00000428778.1:n.323-5_323-4insTTTTTT | |
| NM_001007464.2:c.323-5_323-4insTTTTTT | NP_001007465.1:n.323-5_323-4insTTTTTT | |
| NM_015952.3:c.611-5_611-4insTTTTTT | NP_057036.2:n.611-5_611-4insTTTTTT | |
| NM_016104.3:c.323-5_323-4insTTTTTT | NP_057188.2:n.323-5_323-4insTTTTTT | |
| NM_015952.4:c.611-5_611-4insTTTTTT MANE Select | NP_057036.2:n.611-5_611-4insTTTTTT | |
| NM_001007464.3:c.323-5_323-4insTTTTTT | NP_001007465.1:n.323-5_323-4insTTTTTT | |
| NM_016104.4:c.323-5_323-4insTTTTTT | NP_057188.2:n.323-5_323-4insTTTTTT |