Canonical Allele Identifier: CA2576160305
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012320dup , CM000679.2:g.8012320dup GRCh38
NC_000017.10:g.7915638dup , CM000679.1:g.7915638dup GRCh37
NC_000017.9:g.7856363dup NCBI36
NG_009092.1:g.14651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1926dup MANE Select ENSP00000254854.4:p.Lys643GlnfsTer?
ENST00000254854.4:c.1926dup ENSP00000254854.4:p.Lys643GlnfsTer?
NM_000180.3:c.1926dup NP_000171.1:p.Lys643GlnfsTer?
XM_011523816.1:c.1926dup XP_011522118.1:p.Lys643GlnfsTer?
NM_000180.4:c.1926dup MANE Select NP_000171.1:p.Lys643GlnfsTer?