Linked Data
ClinVar Variation Id:
2431542
ClinVar RCV Id:
RCV003140596
gnomAD v4:
20-32805365-ACTCGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32805368_32805373del , CM000682.2:g.32805368_32805373del | GRCh38 |
| NC_000020.10:g.31393174_31393179del , CM000682.1:g.31393174_31393179del | GRCh37 |
| NC_000020.9:g.30856835_30856840del | NCBI36 |
| NG_007290.1:g.47984_47989del , LRG_56:g.47984_47989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1213_*1218del | ENSP00000512497.1:n.*1213_*1218del | |
| ENST00000696232.1:c.2232-2394_2232-2389del | ENSP00000512498.1:n.2232-2394_2232-2389del | |
| ENST00000696233.1:c.*975-2394_*975-2389del | ENSP00000512499.1:n.*975-2394_*975-2389del | |
| ENST00000696238.1:c.*1005_*1010del | ENSP00000512502.1:n.*1005_*1010del | |
| ENST00000696239.1:c.2043_2048del | ENSP00000512503.1:p.Glu682_Leu683del | |
| ENST00000696245.1:n.327-841_327-836del | ||
| ENST00000201963.3:c.2238_2243del | ENSP00000201963.3:p.Glu747_Leu748del | |
| ENST00000328111.6:c.2262_2267del MANE Select | ENSP00000328547.2:p.Glu755_Leu756del | |
| ENST00000348286.6:c.2172-2394_2172-2389del | ENSP00000337764.2:n.2172-2394_2172-2389del | |
| ENST00000353855.6:c.2202_2207del | ENSP00000313397.4:p.Glu735_Leu736del | |
| ENST00000443239.7:c.2046-2394_2046-2389del | ENSP00000403169.2:n.2046-2394_2046-2389del | |
| ENST00000456297.6:c.1944-2394_1944-2389del | ENSP00000412305.1:n.1944-2394_1944-2389del | |
| NM_001207055.1:c.2046-2394_2046-2389del | NP_001193984.1:n.2046-2394_2046-2389del | |
| NM_001207056.1:c.1944-2394_1944-2389del | NP_001193985.1:n.1944-2394_1944-2389del | |
| NM_006892.3:c.2262_2267del , LRG_56t1:c.2262_2267del | NP_008823.1:p.Glu755_Leu756del | |
| NM_175848.1:c.2202_2207del | NP_787044.1:p.Glu735_Leu736del | |
| NM_175849.1:c.2172-2394_2172-2389del | NP_787045.1:n.2172-2394_2172-2389del | |
| NM_175850.2:c.2238_2243del | NP_787046.1:p.Glu747_Leu748del | |
| XM_011528653.1:c.2208-2394_2208-2389del | XP_011526955.1:n.2208-2394_2208-2389del | |
| XM_011528654.1:c.2082-2394_2082-2389del | XP_011526956.1:n.2082-2394_2082-2389del | |
| XR_936510.1:n.2229_2234del | ||
| XR_936511.1:n.2199-2394_2199-2389del | ||
| XR_936512.1:n.2104_2109del | ||
| XM_011528653.2:c.2208-2394_2208-2389del | XP_011526955.1:n.2208-2394_2208-2389del | |
| XM_011528654.2:c.2082-2394_2082-2389del | XP_011526956.1:n.2082-2394_2082-2389del | |
| XR_936510.2:n.2240_2245del | ||
| XR_936511.2:n.2210-2394_2210-2389del | ||
| XR_936512.2:n.2116_2121del | ||
| NM_001207055.2:c.2046-2394_2046-2389del | NP_001193984.1:n.2046-2394_2046-2389del | |
| NM_001207056.2:c.1944-2394_1944-2389del | NP_001193985.1:n.1944-2394_1944-2389del | |
| NM_006892.4:c.2262_2267del MANE Select | NP_008823.1:p.Glu755_Leu756del | |
| NM_175848.2:c.2202_2207del | NP_787044.1:p.Glu735_Leu736del | |
| NM_175849.2:c.2172-2394_2172-2389del | NP_787045.1:n.2172-2394_2172-2389del | |
| NM_175850.3:c.2238_2243del | NP_787046.1:p.Glu747_Leu748del |