Canonical Allele Identifier: CA2137107116
Gene:

Linked Data

dbSNP Id: rs2034713570
gnomAD v3: 14-52417642-CT-C
gnomAD v4: 14-52417642-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.52417644del , CM000676.2:g.52417644del GRCh38
NC_000014.8:g.52884362del , CM000676.1:g.52884362del GRCh37
NC_000014.7:g.51954112del NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943866.1:n.3060del
Search 100 bp 5'
Search 100 bp 3'