Canonical Allele Identifier: CA2503196137
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2818573_2818578dup , CM000686.2:g.2818573_2818578dup GRCh38
NC_000024.9:g.2686614_2686619dup , CM000686.1:g.2686614_2686619dup GRCh37
NC_000024.8:g.2746614_2746619dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.107-22913_107-22908dup
ENST00000681787.1:n.107-22455_107-22450dup
ENST00000681940.1:n.107-27073_107-27068dup