Canonical Allele Identifier: CA102637960
Gene:

Linked Data

dbSNP Id: rs987507819

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474197del , CM000666.2:g.99474197del GRCh38
NC_000004.11:g.100395354del , CM000666.1:g.100395354del GRCh37
NC_000004.10:g.100614377del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2329del