Canonical Allele Identifier: CA2246053557
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003599_8003602delinsGGCC , CM000679.2:g.8003599_8003602delinsGGCC GRCh38
NC_000017.10:g.7906917_7906920delinsGGCC , CM000679.1:g.7906917_7906920delinsGGCC GRCh37
NC_000017.9:g.7847642_7847645delinsGGCC NCBI36
NG_009092.1:g.5930_5933delinsGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.552_555delinsGGCC MANE Select ENSP00000254854.4:p.Val184=
ENST00000254854.4:c.552_555delinsGGCC ENSP00000254854.4:p.Val184=
NM_000180.3:c.552_555delinsGGCC NP_000171.1:p.Val184=
XM_011523816.1:c.552_555delinsGGCC XP_011522118.1:p.Val184=
NM_000180.4:c.552_555delinsGGCC MANE Select NP_000171.1:p.Val184=
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