Linked Data
dbSNP Id:
rs1345389993
gnomAD v2:
17-42332142-AACTT-A
gnomAD v3:
17-44254774-AACTT-A
gnomAD v4:
17-44254774-AACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254780_44254783del , CM000679.2:g.44254780_44254783del | GRCh38 |
| NC_000017.10:g.42332148_42332151del , CM000679.1:g.42332148_42332151del | GRCh37 |
| NC_000017.9:g.39687674_39687677del | NCBI36 |
| NG_007498.1:g.18357_18360del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1891-116_1891-113del MANE Select | ENSP00000262418.6:n.1891-116_1891-113del | |
| ENST00000262418.10:c.1891-116_1891-113del | ENSP00000262418.6:n.1891-116_1891-113del | |
| ENST00000399246.3:c.793-116_793-113del | ENSP00000382190.3:n.793-116_793-113del | |
| NM_000342.3:c.1891-116_1891-113del | NP_000333.1:n.1891-116_1891-113del | |
| XM_005257593.3:c.1696-116_1696-113del | XP_005257650.1:n.1696-116_1696-113del | |
| XM_011525129.1:c.1801-116_1801-113del | XP_011523431.1:n.1801-116_1801-113del | |
| XM_011525130.1:c.1891-116_1891-113del | XP_011523432.1:n.1891-116_1891-113del | |
| XM_011525131.1:c.1891-116_1891-113del | XP_011523433.1:n.1891-116_1891-113del | |
| XM_005257593.5:c.1696-116_1696-113del | XP_005257650.1:n.1696-116_1696-113del | |
| XM_011525129.2:c.1801-116_1801-113del | XP_011523431.1:n.1801-116_1801-113del | |
| NM_000342.4:c.1891-116_1891-113del MANE Select | NP_000333.1:n.1891-116_1891-113del |