Canonical Allele Identifier: CA2838503144
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43693882dup , CM000681.2:g.43693882dup GRCh38
NC_000019.9:g.44198034dup , CM000681.1:g.44198034dup GRCh37
NC_000019.8:g.48889874dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000636801.1:n.299-1168dup
ENST00000637093.1:n.139-1168dup
XM_011527568.1:c.-116-1168dup XP_011525870.1:n.-116-1168dup
XM_017027562.1:c.-116-1168dup XP_016883051.1:n.-116-1168dup
XM_017027563.1:c.-116-1168dup XP_016883052.1:n.-116-1168dup
XM_017027564.1:c.-116-1168dup XP_016883053.1:n.-116-1168dup
XM_017027565.1:c.-116-1168dup XP_016883054.1:n.-116-1168dup
XM_017027566.1:c.-116-1168dup XP_016883055.1:n.-116-1168dup
XR_001753945.1:n.849-1168dup
XR_001753946.1:n.849-1168dup
NR_172891.1:n.965-1168dup