Canonical Allele Identifier: CA2246114652
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012624_8012627delinsAGAC , CM000679.2:g.8012624_8012627delinsAGAC GRCh38
NC_000017.10:g.7915942_7915945delinsAGAC , CM000679.1:g.7915942_7915945delinsAGAC GRCh37
NC_000017.9:g.7856667_7856670delinsAGAC NCBI36
NG_009092.1:g.14955_14958delinsAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+18_2113+21delinsAGAC MANE Select ENSP00000254854.4:n.2113+18_2113+21delinsAGAC
ENST00000254854.4:c.2113+18_2113+21delinsAGAC ENSP00000254854.4:n.2113+18_2113+21delinsAGAC
NM_000180.3:c.2113+18_2113+21delinsAGAC NP_000171.1:n.2113+18_2113+21delinsAGAC
XM_011523816.1:c.2113+18_2113+21delinsAGAC XP_011522118.1:n.2113+18_2113+21delinsAGAC
NM_000180.4:c.2113+18_2113+21delinsAGAC MANE Select NP_000171.1:n.2113+18_2113+21delinsAGAC