Linked Data
gnomAD v4:
4-55096449-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55096450dup , CM000666.2:g.55096450dup | GRCh38 |
| NC_000004.11:g.55962617dup , CM000666.1:g.55962617dup | GRCh37 |
| NC_000004.10:g.55657374dup | NCBI36 |
| NG_012004.1:g.34146dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.2615-108dup MANE Select | ENSP00000263923.4:n.2615-108dup | |
| ENST00000647068.1:n.2628-108dup | ||
| ENST00000263923.4:c.2615-108dup | ENSP00000263923.4:n.2615-108dup | |
| ENST00000509309.1:n.271dup | ||
| NM_002253.2:c.2615-108dup | NP_002244.1:n.2615-108dup | |
| NM_002253.3:c.2615-108dup | NP_002244.1:n.2615-108dup | |
| NM_002253.4:c.2615-108dup MANE Select | NP_002244.1:n.2615-108dup |