Linked Data
gnomAD v4:
4-119320520-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320526_119320527dup , CM000666.2:g.119320526_119320527dup | GRCh38 |
| NC_000004.11:g.120241681_120241682dup , CM000666.1:g.120241681_120241682dup | GRCh37 |
| NC_000004.10:g.120461129_120461130dup | NCBI36 |
| NG_011444.1:g.6640_6641dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+148_240+149dup MANE Select | ENSP00000274024.3:n.240+148_240+149dup | |
| ENST00000274024.3:c.240+148_240+149dup | ENSP00000274024.3:n.240+148_240+149dup | |
| NM_000134.3:c.240+148_240+149dup | NP_000125.2:n.240+148_240+149dup | |
| NM_000134.4:c.240+148_240+149dup MANE Select | NP_000125.2:n.240+148_240+149dup |