Canonical Allele Identifier: CA915949558
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 800864
ClinVar RCV Id: RCV000985051
dbSNP Id: rs1598151437
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015776del , CM000679.2:g.8015776del GRCh38
NC_000017.10:g.7919094del , CM000679.1:g.7919094del GRCh37
NC_000017.9:g.7859819del NCBI36
NG_009092.1:g.18107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2978del MANE Select ENSP00000254854.4:p.Met993SerfsTer28
ENST00000254854.4:c.2978del ENSP00000254854.4:p.Met993SerfsTer28
NM_000180.3:c.2978del NP_000171.1:p.Met993SerfsTer28
XM_011523816.1:c.2978del XP_011522118.1:p.Met993SerfsTer28
NM_000180.4:c.2978del MANE Select NP_000171.1:p.Met993SerfsTer28
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Search 100 bp 3'