Canonical Allele Identifier: CA1827744301
Gene:

Linked Data

dbSNP Id: rs1817920356
gnomAD v3: 9-1787540-TA-T
gnomAD v4: 9-1787540-TA-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787543del , CM000671.2:g.1787543del GRCh38
NC_000009.11:g.1787543del , CM000671.1:g.1787543del GRCh37
NC_000009.10:g.1777543del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68631del