Canonical Allele Identifier: CA1139002060
Gene:

Linked Data

dbSNP Id: rs2014116430
gnomAD v3: Y-7680780-C-CA
gnomAD v4: Y-7680780-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680781dup , CM000686.2:g.7680781dup GRCh38
NC_000024.9:g.7548822dup , CM000686.1:g.7548822dup GRCh37
NC_000024.8:g.7608822dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000439805.1:n.533dup
Search 100 bp 5'
Search 100 bp 3'