Canonical Allele Identifier: CA241972490
Gene:

Linked Data

dbSNP Id: rs886484053
gnomAD v3: 12-93293142-GCT-G
gnomAD v4: 12-93293142-GCT-G
MyVariant Identifiers: chr12:g.93686919_93686920del (hg19) chr12:g.93293143_93293144del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.93293149_93293150del , CM000674.2:g.93293149_93293150del GRCh38
NC_000012.11:g.93686925_93686926del , CM000674.1:g.93686925_93686926del GRCh37
NC_000012.10:g.92211056_92211057del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040096.1:n.329+34883_329+34884del
Search 100 bp 5'
Search 100 bp 3'