Canonical Allele Identifier: CA1120500422
Gene:

Linked Data

dbSNP Id: rs1817920335
gnomAD v3: 9-1787538-GT-G
gnomAD v4: 9-1787538-GT-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787540del , CM000671.2:g.1787540del GRCh38
NC_000009.11:g.1787540del , CM000671.1:g.1787540del GRCh37
NC_000009.10:g.1777540del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68628del