Canonical Allele Identifier: CA624867959
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs762570628
gnomAD v2: 17-7918598-CG-C
gnomAD v4: 17-8015280-CG-C
MyVariant Identifiers: chr17:g.7918599del (hg19) chr17:g.8015281del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015286del , CM000679.2:g.8015286del GRCh38
NC_000017.10:g.7918604del , CM000679.1:g.7918604del GRCh37
NC_000017.9:g.7859329del NCBI36
NG_009092.1:g.17617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2770-42del MANE Select ENSP00000254854.4:n.2770-42del
ENST00000254854.4:c.2770-42del ENSP00000254854.4:n.2770-42del
NM_000180.3:c.2770-42del NP_000171.1:n.2770-42del
XM_011523816.1:c.2770-42del XP_011522118.1:n.2770-42del
NM_000180.4:c.2770-42del MANE Select NP_000171.1:n.2770-42del
Search 100 bp 5'
Search 100 bp 3'