Canonical Allele Identifier: CA2740095258
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2951528
ClinVar RCV Id: RCV003805230
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015521_8015528del , CM000679.2:g.8015521_8015528del GRCh38
NC_000017.10:g.7918839_7918846del , CM000679.1:g.7918839_7918846del GRCh37
NC_000017.9:g.7859564_7859571del NCBI36
NG_009092.1:g.17852_17859del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+19_2944+26del MANE Select ENSP00000254854.4:n.2944+19_2944+26del
ENST00000254854.4:c.2944+19_2944+26del ENSP00000254854.4:n.2944+19_2944+26del
NM_000180.3:c.2944+19_2944+26del NP_000171.1:n.2944+19_2944+26del
XM_011523816.1:c.2944+19_2944+26del XP_011522118.1:n.2944+19_2944+26del
NM_000180.4:c.2944+19_2944+26del MANE Select NP_000171.1:n.2944+19_2944+26del
Search 100 bp 5'
Search 100 bp 3'