Linked Data
gnomAD v2:
6-116914134-C-CTTTTTTT
MyVariant Identifiers:
chr6:g.116914134_116914135insTTTTTTT (hg19)
chr6:g.116592971_116592972insTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592975_116592976insTTTTTTT , CM000668.2:g.116592975_116592976insTTTTTTT | GRCh38 |
| NC_000006.11:g.116914138_116914139insTTTTTTT , CM000668.1:g.116914138_116914139insTTTTTTT | GRCh37 |
| NC_000006.10:g.117020831_117020832insTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-5_611-4insTTTTTTT MANE Select | ENSP00000420357.2:n.611-5_611-4insTTTTTTT | |
| ENST00000466444.6:c.611-5_611-4insTTTTTTT | ENSP00000420357.2:n.611-5_611-4insTTTTTTT | |
| ENST00000487832.6:c.323-5_323-4insTTTTTTT | ENSP00000428778.1:n.323-5_323-4insTTTTTTT | |
| NM_001007464.2:c.323-5_323-4insTTTTTTT | NP_001007465.1:n.323-5_323-4insTTTTTTT | |
| NM_015952.3:c.611-5_611-4insTTTTTTT | NP_057036.2:n.611-5_611-4insTTTTTTT | |
| NM_016104.3:c.323-5_323-4insTTTTTTT | NP_057188.2:n.323-5_323-4insTTTTTTT | |
| NM_015952.4:c.611-5_611-4insTTTTTTT MANE Select | NP_057036.2:n.611-5_611-4insTTTTTTT | |
| NM_001007464.3:c.323-5_323-4insTTTTTTT | NP_001007465.1:n.323-5_323-4insTTTTTTT | |
| NM_016104.4:c.323-5_323-4insTTTTTTT | NP_057188.2:n.323-5_323-4insTTTTTTT |