Linked Data
dbSNP Id:
rs571943218
gnomAD v2:
1-231413484-GT-G
gnomAD v3:
1-231277738-GT-G
gnomAD v4:
1-231277738-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231277741del , CM000663.2:g.231277741del | GRCh38 |
| NC_000001.10:g.231413487del , CM000663.1:g.231413487del | GRCh37 |
| NC_000001.9:g.229480110del | NCBI36 |
| NG_008240.1:g.41569del | |
| NG_008240.2:g.41569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.*199del MANE Select | ENSP00000355607.4:n.*199del | |
| ENST00000644483.1:c.*1928del | ENSP00000496537.1:n.*1928del | |
| ENST00000366647.8:c.*199del | ENSP00000355607.4:n.*199del | |
| NM_001316350.1:c.*199del | NP_001303279.1:n.*199del | |
| NM_014236.3:c.*199del | NP_055051.1:n.*199del | |
| XM_005273313.3:c.*199del | XP_005273370.1:n.*199del | |
| XM_011544303.1:c.*199del | XP_011542605.1:n.*199del | |
| XM_011544304.1:c.*199del | XP_011542606.1:n.*199del | |
| XM_005273313.4:c.*199del | XP_005273370.1:n.*199del | |
| XM_011544303.3:c.*199del | XP_011542605.1:n.*199del | |
| XM_011544304.2:c.*199del | XP_011542606.1:n.*199del | |
| NM_014236.4:c.*199del MANE Select | NP_055051.1:n.*199del | |
| NM_001316350.2:c.*199del | NP_001303279.1:n.*199del |