Canonical Allele Identifier: CA287531193
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs754841103
gnomAD v4: 17-8012497-GTCAC-G
MyVariant Identifiers: chr17:g.7915816_7915819del (hg19) chr17:g.8012498_8012501del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012498_8012501del , CM000679.2:g.8012498_8012501del GRCh38
NC_000017.10:g.7915816_7915819del , CM000679.1:g.7915816_7915819del GRCh37
NC_000017.9:g.7856541_7856544del NCBI36
NG_009092.1:g.14829_14832del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2005_2008del MANE Select ENSP00000254854.4:p.Ser669GlyfsTer4
ENST00000254854.4:c.2005_2008del ENSP00000254854.4:p.Ser669GlyfsTer4
NM_000180.3:c.2005_2008del NP_000171.1:p.Ser669GlyfsTer4
XM_011523816.1:c.2005_2008del XP_011522118.1:p.Ser669GlyfsTer4
NM_000180.4:c.2005_2008del MANE Select NP_000171.1:p.Ser669GlyfsTer4
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