Canonical Allele Identifier: CA2002397737
Gene:

Linked Data

dbSNP Id: rs1864209748

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072519_116072521del , CM000673.2:g.116072519_116072521del GRCh38
NC_000011.9:g.115943237_115943239del , CM000673.1:g.115943237_115943239del GRCh37
NC_000011.8:g.115448447_115448449del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+495_192+497del
XR_948056.1:n.311-5314_311-5312del
XR_948057.1:n.97+590_97+592del
XR_001748401.1:n.192+495_192+497del
XR_948055.2:n.192+495_192+497del
XR_948056.2:n.314-5314_314-5312del
XR_948057.2:n.97+590_97+592del