Canonical Allele Identifier: CA1817441967
Gene:

Linked Data

dbSNP Id: rs1812780454
gnomAD v3: 8-125478668-AAAG-A
gnomAD v4: 8-125478668-AAAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478674_125478676del , CM000670.2:g.125478674_125478676del GRCh38
NC_000008.10:g.126490916_126490918del , CM000670.1:g.126490916_126490918del GRCh37
NC_000008.9:g.126560098_126560100del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5360_256+5362del
Search 100 bp 5'
Search 100 bp 3'