Canonical Allele Identifier: CA2246053483
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003543_8003544delinsAC , CM000679.2:g.8003543_8003544delinsAC GRCh38
NC_000017.10:g.7906861_7906862delinsAC , CM000679.1:g.7906861_7906862delinsAC GRCh37
NC_000017.9:g.7847586_7847587delinsAC NCBI36
NG_009092.1:g.5874_5875delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.496_497delinsAC MANE Select ENSP00000254854.4:p.Thr166=
ENST00000254854.4:c.496_497delinsAC ENSP00000254854.4:p.Thr166=
NM_000180.3:c.496_497delinsAC NP_000171.1:p.Thr166=
XM_011523816.1:c.496_497delinsAC XP_011522118.1:p.Thr166=
NM_000180.4:c.496_497delinsAC MANE Select NP_000171.1:p.Thr166=
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