Canonical Allele Identifier: CA945946289
Gene:

Linked Data

dbSNP Id: rs1865523990
gnomAD v3: 12-28045234-T-TA
gnomAD v4: 12-28045234-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.28045235dup , CM000674.2:g.28045235dup GRCh38
NC_000012.11:g.28198168dup , CM000674.1:g.28198168dup GRCh37
NC_000012.10:g.28089435dup NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931460.1:n.154-6277dup
Search 100 bp 5'
Search 100 bp 3'