Canonical Allele Identifier: CA2601154675
Gene:

Linked Data

dbSNP Id: rs2112285093
gnomAD v3: 5-92222760-C-CT
gnomAD v4: 5-92222760-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222761dup , CM000667.2:g.92222761dup GRCh38
NC_000005.9:g.91518578dup , CM000667.1:g.91518578dup GRCh37
NC_000005.8:g.91554334dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18077dup
Search 100 bp 5'
Search 100 bp 3'