Canonical Allele Identifier: CA2808381770
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015816_8015822del , CM000679.2:g.8015816_8015822del GRCh38
NC_000017.10:g.7919134_7919140del , CM000679.1:g.7919134_7919140del GRCh37
NC_000017.9:g.7859859_7859865del NCBI36
NG_009092.1:g.18147_18153del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3018_3024del MANE Select ENSP00000254854.4:p.Ser1007TrpfsTer12
ENST00000254854.4:c.3018_3024del ENSP00000254854.4:p.Ser1007TrpfsTer12
NM_000180.3:c.3018_3024del NP_000171.1:p.Ser1007TrpfsTer12
XM_011523816.1:c.3018_3024del XP_011522118.1:p.Ser1007TrpfsTer12
NM_000180.4:c.3018_3024del MANE Select NP_000171.1:p.Ser1007TrpfsTer12
Search 100 bp 5'
Search 100 bp 3'