Canonical Allele Identifier: CA287533747
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs867821640
MyVariant Identifiers: chr17:g.7918761del (hg19) chr17:g.8015443del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015443del , CM000679.2:g.8015443del GRCh38
NC_000017.10:g.7918761del , CM000679.1:g.7918761del GRCh37
NC_000017.9:g.7859486del NCBI36
NG_009092.1:g.17774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2885del MANE Select ENSP00000254854.4:p.Thr962IlefsTer16
ENST00000254854.4:c.2885del ENSP00000254854.4:p.Thr962IlefsTer16
NM_000180.3:c.2885del NP_000171.1:p.Thr962IlefsTer16
XM_011523816.1:c.2885del XP_011522118.1:p.Thr962IlefsTer16
NM_000180.4:c.2885del MANE Select NP_000171.1:p.Thr962IlefsTer16
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