Canonical Allele Identifier: CA2840382286
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003690del , CM000679.2:g.8003690del GRCh38
NC_000017.10:g.7907008del , CM000679.1:g.7907008del GRCh37
NC_000017.9:g.7847733del NCBI36
NG_009092.1:g.6021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.643del MANE Select ENSP00000254854.4:p.Val215Ter
ENST00000254854.4:c.643del ENSP00000254854.4:p.Val215Ter
NM_000180.3:c.643del NP_000171.1:p.Val215Ter
XM_011523816.1:c.643del XP_011522118.1:p.Val215Ter
NM_000180.4:c.643del MANE Select NP_000171.1:p.Val215Ter
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Search 100 bp 3'