Canonical Allele Identifier: CA2808393027
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012377_8012378insAGA , CM000679.2:g.8012377_8012378insAGA GRCh38
NC_000017.10:g.7915695_7915696insAGA , CM000679.1:g.7915695_7915696insAGA GRCh37
NC_000017.9:g.7856420_7856421insAGA NCBI36
NG_009092.1:g.14708_14709insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1956+27_1956+28insAGA MANE Select ENSP00000254854.4:n.1956+27_1956+28insAGA
ENST00000254854.4:c.1956+27_1956+28insAGA ENSP00000254854.4:n.1956+27_1956+28insAGA
NM_000180.3:c.1956+27_1956+28insAGA NP_000171.1:n.1956+27_1956+28insAGA
XM_011523816.1:c.1956+27_1956+28insAGA XP_011522118.1:n.1956+27_1956+28insAGA
NM_000180.4:c.1956+27_1956+28insAGA MANE Select NP_000171.1:n.1956+27_1956+28insAGA