Canonical Allele Identifier: CA981232726
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v3: 17-8015705-GGCCC-G
gnomAD v4: 17-8015705-GGCCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015706_8015709del , CM000679.2:g.8015706_8015709del GRCh38
NC_000017.10:g.7919024_7919027del , CM000679.1:g.7919024_7919027del GRCh37
NC_000017.9:g.7859749_7859752del NCBI36
NG_009092.1:g.18037_18040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2945-37_2945-34del MANE Select ENSP00000254854.4:n.2945-37_2945-34del
ENST00000254854.4:c.2945-37_2945-34del ENSP00000254854.4:n.2945-37_2945-34del
NM_000180.3:c.2945-37_2945-34del NP_000171.1:n.2945-37_2945-34del
XM_011523816.1:c.2945-37_2945-34del XP_011522118.1:n.2945-37_2945-34del
NM_000180.4:c.2945-37_2945-34del MANE Select NP_000171.1:n.2945-37_2945-34del
Search 100 bp 5'
Search 100 bp 3'