Canonical Allele Identifier: CA2002397722
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072487G= , CM000673.2:g.116072487G= GRCh38
NC_000011.9:g.115943205G= , CM000673.1:g.115943205G= GRCh37
NC_000011.8:g.115448415G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+527C=
XR_948056.1:n.311-5282C=
XR_948057.1:n.97+622C=
XR_001748401.1:n.192+527C=
XR_948055.2:n.192+527C=
XR_948056.2:n.314-5282C=
XR_948057.2:n.97+622C=