Canonical Allele Identifier: CA981230132
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v3: 17-8012003-A-AT
gnomAD v4: 17-8012003-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012003_8012004insT , CM000679.2:g.8012003_8012004insT GRCh38
NC_000017.10:g.7915321_7915322insT , CM000679.1:g.7915321_7915322insT GRCh37
NC_000017.9:g.7856046_7856047insT NCBI36
NG_009092.1:g.14334_14335insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-141_1750-140insT MANE Select ENSP00000254854.4:n.1750-141_1750-140insT
ENST00000254854.4:c.1750-141_1750-140insT ENSP00000254854.4:n.1750-141_1750-140insT
NM_000180.3:c.1750-141_1750-140insT NP_000171.1:n.1750-141_1750-140insT
XM_011523816.1:c.1750-141_1750-140insT XP_011522118.1:n.1750-141_1750-140insT
NM_000180.4:c.1750-141_1750-140insT MANE Select NP_000171.1:n.1750-141_1750-140insT
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