Canonical Allele Identifier: CA397944230
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1555634640
gnomAD v2: 17-7906930-GC-G
gnomAD v4: 17-8003612-GC-G
COSMIC: COSM5546722
MyVariant Identifiers: chr17:g.7906931del (hg19) chr17:g.8003614del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003618del , CM000679.2:g.8003618del GRCh38
NC_000017.10:g.7906936del , CM000679.1:g.7906936del GRCh37
NC_000017.9:g.7847661del NCBI36
NG_009092.1:g.5949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.571del MANE Select ENSP00000254854.4:p.Gln191ArgfsTer25
ENST00000254854.4:c.571del ENSP00000254854.4:p.Gln191ArgfsTer25
NM_000180.3:c.571del NP_000171.1:p.Gln191ArgfsTer25
XM_011523816.1:c.571del XP_011522118.1:p.Gln191ArgfsTer25
NM_000180.4:c.571del MANE Select NP_000171.1:p.Gln191ArgfsTer25
Search 100 bp 5'
Search 100 bp 3'