Canonical Allele Identifier: CA2246053197
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1025080
ClinVar RCV Id: RCV001325354
dbSNP Id: rs1975666989
gnomAD v4: 17-8003268-A-ACCTGGCCGCCCG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003279_8003290dup , CM000679.2:g.8003279_8003290dup GRCh38
NC_000017.10:g.7906597_7906608dup , CM000679.1:g.7906597_7906608dup GRCh37
NC_000017.9:g.7847322_7847333dup NCBI36
NG_009092.1:g.5610_5621dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.232_243dup MANE Select ENSP00000254854.4:p.Ala81_Ala82insArgLeuAlaAla
ENST00000254854.4:c.232_243dup ENSP00000254854.4:p.Ala81_Ala82insArgLeuAlaAla
NM_000180.3:c.232_243dup NP_000171.1:p.Ala81_Ala82insArgLeuAlaAla
XM_011523816.1:c.232_243dup XP_011522118.1:p.Ala81_Ala82insArgLeuAlaAla
NM_000180.4:c.232_243dup MANE Select NP_000171.1:p.Ala81_Ala82insArgLeuAlaAla
Search 100 bp 5'
Search 100 bp 3'