Linked Data
gnomAD v4:
X-154905041-C-CAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154905049_154905053dup , CM000685.2:g.154905049_154905053dup | GRCh38 |
| NC_000023.10:g.154133324_154133328dup , CM000685.1:g.154133324_154133328dup | GRCh37 |
| NC_000023.9:g.153786518_153786522dup | NCBI36 |
| NG_011403.1:g.122678_122682dup | |
| NG_011403.2:g.122678_122682dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5374-23_5374-19dup MANE Select | ENSP00000353393.4:n.5374-23_5374-19dup | |
| ENST00000360256.8:c.5374-23_5374-19dup | ENSP00000353393.4:n.5374-23_5374-19dup | |
| NM_000132.3:c.5374-23_5374-19dup | NP_000123.1:n.5374-23_5374-19dup | |
| XM_011531126.1:c.5269-23_5269-19dup | XP_011529428.1:n.5269-23_5269-19dup | |
| NM_000132.4:c.5374-23_5374-19dup MANE Select | NP_000123.1:n.5374-23_5374-19dup |