Canonical Allele Identifier: CA2695224518
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012199_8012223del , CM000679.2:g.8012199_8012223del GRCh38
NC_000017.10:g.7915517_7915541del , CM000679.1:g.7915517_7915541del GRCh37
NC_000017.9:g.7856242_7856266del NCBI36
NG_009092.1:g.14530_14554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1805_1829del MANE Select ENSP00000254854.4:p.Arg602ProfsTer27
ENST00000254854.4:c.1805_1829del ENSP00000254854.4:p.Arg602ProfsTer27
NM_000180.3:c.1805_1829del NP_000171.1:p.Arg602ProfsTer27
XM_011523816.1:c.1805_1829del XP_011522118.1:p.Arg602ProfsTer27
NM_000180.4:c.1805_1829del MANE Select NP_000171.1:p.Arg602ProfsTer27
Search 100 bp 5'
Search 100 bp 3'