Canonical Allele Identifier: CA246212022
Gene:

Linked Data

dbSNP Id: rs910706481

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529596del , CM000674.2:g.131529596del GRCh38
NC_000012.11:g.132014141del , CM000674.1:g.132014141del GRCh37
NC_000012.10:g.130580094del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+179del
XR_001749407.2:n.1067+179del