Canonical Allele Identifier: CA2246120944
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015775_8015776delinsAT , CM000679.2:g.8015775_8015776delinsAT GRCh38
NC_000017.10:g.7919093_7919094delinsAT , CM000679.1:g.7919093_7919094delinsAT GRCh37
NC_000017.9:g.7859818_7859819delinsAT NCBI36
NG_009092.1:g.18106_18107delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2977_2978delinsAT MANE Select ENSP00000254854.4:p.Met993=
ENST00000254854.4:c.2977_2978delinsAT ENSP00000254854.4:p.Met993=
NM_000180.3:c.2977_2978delinsAT NP_000171.1:p.Met993=
XM_011523816.1:c.2977_2978delinsAT XP_011522118.1:p.Met993=
NM_000180.4:c.2977_2978delinsAT MANE Select NP_000171.1:p.Met993=
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