Canonical Allele Identifier: CA246212031
Gene:

Linked Data

dbSNP Id: rs34444386
gnomAD v2: 12-132014153-GA-G
gnomAD v3: 12-131529608-GA-G
gnomAD v4: 12-131529608-GA-G
MyVariant Identifiers: chr12:g.132014154del (hg19) chr12:g.131529609del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529616del , CM000674.2:g.131529616del GRCh38
NC_000012.11:g.132014161del , CM000674.1:g.132014161del GRCh37
NC_000012.10:g.130580114del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+166del
XR_001749407.2:n.1067+166del
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