Linked Data
dbSNP Id:
rs1473841204
gnomAD v2:
4-151765481-CCA-C
gnomAD v3:
4-150844329-CCA-C
gnomAD v4:
4-150844329-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.150844331_150844332del , CM000666.2:g.150844331_150844332del | GRCh38 |
| NC_000004.11:g.151765483_151765484del , CM000666.1:g.151765483_151765484del | GRCh37 |
| NC_000004.10:g.151984933_151984934del | NCBI36 |
| NG_032855.1:g.176167_176168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651695.2:c.4462-124_4462-123del | ENSP00000498254.2:n.4462-124_4462-123del | |
| ENST00000697129.1:n.2789-124_2789-123del | ||
| ENST00000357115.9:c.4462-124_4462-123del | ENSP00000349629.3:n.4462-124_4462-123del | |
| ENST00000651035.1:c.4462-124_4462-123del | ENSP00000498673.1:n.4462-124_4462-123del | |
| ENST00000651695.1:c.2176-124_2176-123del | ENSP00000498254.1:n.2176-124_2176-123del | |
| ENST00000651943.2:c.4462-124_4462-123del MANE Select | ENSP00000498582.2:n.4462-124_4462-123del | |
| ENST00000357115.7:c.4462-124_4462-123del | ENSP00000349629.3:n.4462-124_4462-123del | |
| ENST00000502839.1:c.193-124_193-123del | ENSP00000424640.1:n.193-124_193-123del | |
| ENST00000507224.5:c.4462-124_4462-123del | ENSP00000422180.1:n.4462-124_4462-123del | |
| ENST00000509835.5:c.420-124_420-123del | ||
| ENST00000510413.5:c.4462-124_4462-123del | ENSP00000421552.1:n.4462-124_4462-123del | |
| NM_001199282.2:c.4462-124_4462-123del | NP_001186211.2:n.4462-124_4462-123del | |
| NM_006726.4:c.4462-124_4462-123del | NP_006717.2:n.4462-124_4462-123del | |
| XM_005263372.2:c.4462-124_4462-123del | XP_005263429.1:n.4462-124_4462-123del | |
| XM_005263373.1:c.4462-124_4462-123del | XP_005263430.1:n.4462-124_4462-123del | |
| XM_005263374.2:c.4462-124_4462-123del | XP_005263431.1:n.4462-124_4462-123del | |
| XM_005263375.2:c.4462-124_4462-123del | XP_005263432.1:n.4462-124_4462-123del | |
| XM_005263377.2:c.4462-124_4462-123del | XP_005263434.1:n.4462-124_4462-123del | |
| XM_011532434.1:c.4462-124_4462-123del | XP_011530736.1:n.4462-124_4462-123del | |
| NM_001364905.1:c.4462-124_4462-123del MANE Select | NP_001351834.1:n.4462-124_4462-123del | |
| XM_005263372.3:c.4462-124_4462-123del | XP_005263429.1:n.4462-124_4462-123del | |
| XM_005263373.3:c.4462-124_4462-123del | XP_005263430.1:n.4462-124_4462-123del | |
| XM_005263374.3:c.4462-124_4462-123del | XP_005263431.1:n.4462-124_4462-123del | |
| XM_011532434.2:c.4462-124_4462-123del | XP_011530736.1:n.4462-124_4462-123del | |
| XM_017008872.2:c.4462-124_4462-123del | XP_016864361.1:n.4462-124_4462-123del | |
| NM_001367550.1:c.4462-124_4462-123del | NP_001354479.1:n.4462-124_4462-123del |