Canonical Allele Identifier: CA8366224
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2926785
ClinVar RCV Id: RCV003789023
dbSNP Id: rs766104084
ExAC: 17:7918629 ACTC / A
gnomAD v2: 17-7918629-ACTC-A
gnomAD v4: 17-8015311-ACTC-A
MyVariant Identifiers: chr17:g.7918630_7918632del (hg19) chr17:g.8015312_8015314del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015314_8015316del , CM000679.2:g.8015314_8015316del GRCh38
NC_000017.10:g.7918632_7918634del , CM000679.1:g.7918632_7918634del GRCh37
NC_000017.9:g.7859357_7859359del NCBI36
NG_009092.1:g.17645_17647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2770-14_2770-12del MANE Select ENSP00000254854.4:n.2770-14_2770-12del
ENST00000254854.4:c.2770-14_2770-12del ENSP00000254854.4:n.2770-14_2770-12del
NM_000180.3:c.2770-14_2770-12del NP_000171.1:n.2770-14_2770-12del
XM_011523816.1:c.2770-14_2770-12del XP_011522118.1:n.2770-14_2770-12del
NM_000180.4:c.2770-14_2770-12del MANE Select NP_000171.1:n.2770-14_2770-12del
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