Linked Data
gnomAD v4:
X-54495111-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495112dup , CM000685.2:g.54495112dup | GRCh38 |
| NC_000023.10:g.54521545dup , CM000685.1:g.54521545dup | GRCh37 |
| NC_000023.9:g.54538270dup | NCBI36 |
| NG_008054.1:g.6055dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.307+14dup MANE Select | ENSP00000364277.3:n.307+14dup | |
| ENST00000375135.3:c.307+14dup | ENSP00000364277.3:n.307+14dup | |
| NM_004463.2:c.307+14dup | NP_004454.2:n.307+14dup | |
| NM_004463.3:c.307+14dup MANE Select | NP_004454.2:n.307+14dup |