Canonical Allele Identifier: CA8365767
Gene: GUCY2D HGNC NCBI
gnomAD v2:
17:7910727 AC / A
gnomAD v3:
17:8007409 AC / A
gnomAD v4:
chr17-8007409-AC-A
Joint Max Group AF 0.00036498 (NFE)
Genomes Max Group AF 0.00011234 (NFE)
Exomes Max Group AF 0.00037648 (NFE)
ClinVar RCV:
RCV001402866
ClinVar Variation:
1085457
dbSNP:
761213112
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8007411del , CM000679.2:g.8007411del GRCh38
NC_000017.10:g.7910729del , CM000679.1:g.7910729del GRCh37
NC_000017.9:g.7851454del NCBI36
NG_009092.1:g.9742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1464-15del MANE Select ENSP00000254854.4:n.1464-15del
ENST00000254854.4:c.1464-15del ENSP00000254854.4:n.1464-15del
NM_000180.3:c.1464-15del NP_000171.1:n.1464-15del
XM_011523816.1:c.1464-15del XP_011522118.1:n.1464-15del
NM_000180.4:c.1464-15del MANE Select NP_000171.1:n.1464-15del
Search 100 bp 5'
Search 100 bp 3'