Linked Data
dbSNP Id:
rs1276189892
gnomAD v2:
10-91007239-T-TA
gnomAD v3:
10-89247482-T-TA
gnomAD v4:
10-89247482-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89247484dup , CM000672.2:g.89247484dup | GRCh38 |
| NC_000010.10:g.91007241dup , CM000672.1:g.91007241dup | GRCh37 |
| NC_000010.9:g.90997221dup | NCBI36 |
| NG_008194.1:g.9421dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.111+55dup MANE Select | ENSP00000337354.5:n.111+55dup | |
| ENST00000282673.5:c.111+55dup | ENSP00000282673.4:n.111+55dup | |
| ENST00000336233.9:c.111+55dup | ENSP00000337354.5:n.111+55dup | |
| ENST00000371837.5:c.62-19085dup | ENSP00000360903.1:n.62-19085dup | |
| ENST00000428800.5:c.111+55dup | ENSP00000388415.1:n.111+55dup | |
| ENST00000456827.5:c.-120+4254dup | ENSP00000413019.2:n.-120+4254dup | |
| NM_000235.3:c.111+55dup | NP_000226.2:n.111+55dup | |
| NM_001127605.2:c.111+55dup | NP_001121077.1:n.111+55dup | |
| NM_001288979.1:c.-120+4254dup | NP_001275908.1:n.-120+4254dup | |
| XM_024448023.1:c.111+55dup | XP_024303791.1:n.111+55dup | |
| NM_000235.4:c.111+55dup MANE Select | NP_000226.2:n.111+55dup | |
| NM_001127605.3:c.111+55dup | NP_001121077.1:n.111+55dup | |
| NM_001288979.2:c.-120+4254dup | NP_001275908.1:n.-120+4254dup |