Canonical Allele Identifier: CA2635955114
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2945296
ClinVar RCV Id: RCV003800950
gnomAD v4: 17-8015852-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015856del , CM000679.2:g.8015856del GRCh38
NC_000017.10:g.7919174del , CM000679.1:g.7919174del GRCh37
NC_000017.9:g.7859899del NCBI36
NG_009092.1:g.18187del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3043+15del MANE Select ENSP00000254854.4:n.3043+15del
ENST00000254854.4:c.3043+15del ENSP00000254854.4:n.3043+15del
NM_000180.3:c.3043+15del NP_000171.1:n.3043+15del
XM_011523816.1:c.3043+15del XP_011522118.1:n.3043+15del
NM_000180.4:c.3043+15del MANE Select NP_000171.1:n.3043+15del
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