Canonical Allele Identifier: CA2246114263
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012451_8012452delinsGA , CM000679.2:g.8012451_8012452delinsGA GRCh38
NC_000017.10:g.7915769_7915770delinsGA , CM000679.1:g.7915769_7915770delinsGA GRCh37
NC_000017.9:g.7856494_7856495delinsGA NCBI36
NG_009092.1:g.14782_14783delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1958_1959delinsGA MANE Select ENSP00000254854.4:p.Gly653=
ENST00000254854.4:c.1958_1959delinsGA ENSP00000254854.4:p.Gly653=
NM_000180.3:c.1958_1959delinsGA NP_000171.1:p.Gly653=
XM_011523816.1:c.1958_1959delinsGA XP_011522118.1:p.Gly653=
NM_000180.4:c.1958_1959delinsGA MANE Select NP_000171.1:p.Gly653=
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