Canonical Allele Identifier: CA2520666227
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067777_49067780dup , CM000676.2:g.49067777_49067780dup GRCh38
NC_000014.8:g.49534495_49534498dup , CM000676.1:g.49534495_49534498dup GRCh37
NC_000014.7:g.48604245_48604248dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2014_222+2017dup
XR_943837.2:n.345+2014_345+2017dup