Linked Data
ClinVar Variation Id:
1500834
ClinVar RCV Id:
RCV002015952
dbSNP Id:
rs1404812646
gnomAD v2:
2-112686992-ACCT-A
gnomAD v4:
2-111929415-ACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111929416_111929418del , CM000664.2:g.111929416_111929418del | GRCh38 |
| NC_000002.11:g.112686993_112686995del , CM000664.1:g.112686993_112686995del | GRCh37 |
| NC_000002.10:g.112403464_112403466del | NCBI36 |
| NG_011607.1:g.35803_35805del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.358_360del MANE Select | ENSP00000295408.4:p.Pro120del | |
| ENST00000295408.8:c.358_360del | ENSP00000295408.4:p.Pro120del | |
| ENST00000409780.5:c.-46-15544_-46-15542del | ENSP00000387277.1:n.-46-15544_-46-15542del | |
| ENST00000421804.6:c.358_360del | ENSP00000389152.2:p.Pro120del | |
| ENST00000439966.5:c.246+112_246+114del | ENSP00000402129.1:n.246+112_246+114del | |
| ENST00000616902.4:c.-858_-856del | ENSP00000482824.1:n.-858_-856del | |
| NM_006343.2:c.358_360del | NP_006334.2:p.Pro120del | |
| XM_005263565.3:c.358_360del | XP_005263622.1:p.Pro120del | |
| XM_005263568.3:c.358_360del | XP_005263625.1:p.Pro120del | |
| XM_011510490.1:c.169_171del | XP_011508792.1:p.Pro57del | |
| XM_005263565.4:c.358_360del | XP_005263622.1:p.Pro120del | |
| XM_005263568.4:c.358_360del | XP_005263625.1:p.Pro120del | |
| XM_011510490.3:c.169_171del | XP_011508792.1:p.Pro57del | |
| XM_017003164.1:c.169_171del | XP_016858653.1:p.Pro57del | |
| XM_017003165.2:c.-910_-908del | XP_016858654.1:n.-910_-908del | |
| NM_006343.3:c.358_360del MANE Select | NP_006334.2:p.Pro120del |