Linked Data
dbSNP Id:
rs1256537654
gnomAD v2:
20-31393118-AAGT-A
gnomAD v3:
20-32805312-AAGT-A
gnomAD v4:
20-32805312-AAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32805314_32805316del , CM000682.2:g.32805314_32805316del | GRCh38 |
| NC_000020.10:g.31393120_31393122del , CM000682.1:g.31393120_31393122del | GRCh37 |
| NC_000020.9:g.30856781_30856783del | NCBI36 |
| NG_007290.1:g.47930_47932del , LRG_56:g.47930_47932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1183-24_*1183-22del | ENSP00000512497.1:n.*1183-24_*1183-22del | |
| ENST00000696232.1:c.2232-2448_2232-2446del | ENSP00000512498.1:n.2232-2448_2232-2446del | |
| ENST00000696233.1:c.*975-2448_*975-2446del | ENSP00000512499.1:n.*975-2448_*975-2446del | |
| ENST00000696238.1:c.*975-24_*975-22del | ENSP00000512502.1:n.*975-24_*975-22del | |
| ENST00000696239.1:c.2013-24_2013-22del | ENSP00000512503.1:n.2013-24_2013-22del | |
| ENST00000696245.1:n.327-895_327-893del | ||
| ENST00000201963.3:c.2208-24_2208-22del | ENSP00000201963.3:n.2208-24_2208-22del | |
| ENST00000328111.6:c.2232-24_2232-22del MANE Select | ENSP00000328547.2:n.2232-24_2232-22del | |
| ENST00000348286.6:c.2172-2448_2172-2446del | ENSP00000337764.2:n.2172-2448_2172-2446del | |
| ENST00000353855.6:c.2172-24_2172-22del | ENSP00000313397.4:n.2172-24_2172-22del | |
| ENST00000443239.7:c.2046-2448_2046-2446del | ENSP00000403169.2:n.2046-2448_2046-2446del | |
| ENST00000456297.6:c.1944-2448_1944-2446del | ENSP00000412305.1:n.1944-2448_1944-2446del | |
| NM_001207055.1:c.2046-2448_2046-2446del | NP_001193984.1:n.2046-2448_2046-2446del | |
| NM_001207056.1:c.1944-2448_1944-2446del | NP_001193985.1:n.1944-2448_1944-2446del | |
| NM_006892.3:c.2232-24_2232-22del , LRG_56t1:c.2232-24_2232-22del | NP_008823.1:n.2232-24_2232-22del | |
| NM_175848.1:c.2172-24_2172-22del | NP_787044.1:n.2172-24_2172-22del | |
| NM_175849.1:c.2172-2448_2172-2446del | NP_787045.1:n.2172-2448_2172-2446del | |
| NM_175850.2:c.2208-24_2208-22del | NP_787046.1:n.2208-24_2208-22del | |
| XM_011528653.1:c.2208-2448_2208-2446del | XP_011526955.1:n.2208-2448_2208-2446del | |
| XM_011528654.1:c.2082-2448_2082-2446del | XP_011526956.1:n.2082-2448_2082-2446del | |
| XR_936510.1:n.2199-24_2199-22del | ||
| XR_936511.1:n.2199-2448_2199-2446del | ||
| XR_936512.1:n.2074-24_2074-22del | ||
| XM_011528653.2:c.2208-2448_2208-2446del | XP_011526955.1:n.2208-2448_2208-2446del | |
| XM_011528654.2:c.2082-2448_2082-2446del | XP_011526956.1:n.2082-2448_2082-2446del | |
| XR_936510.2:n.2210-24_2210-22del | ||
| XR_936511.2:n.2210-2448_2210-2446del | ||
| XR_936512.2:n.2086-24_2086-22del | ||
| NM_001207055.2:c.2046-2448_2046-2446del | NP_001193984.1:n.2046-2448_2046-2446del | |
| NM_001207056.2:c.1944-2448_1944-2446del | NP_001193985.1:n.1944-2448_1944-2446del | |
| NM_006892.4:c.2232-24_2232-22del MANE Select | NP_008823.1:n.2232-24_2232-22del | |
| NM_175848.2:c.2172-24_2172-22del | NP_787044.1:n.2172-24_2172-22del | |
| NM_175849.2:c.2172-2448_2172-2446del | NP_787045.1:n.2172-2448_2172-2446del | |
| NM_175850.3:c.2208-24_2208-22del | NP_787046.1:n.2208-24_2208-22del |