Canonical Allele Identifier: CA2740095259
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2948613
ClinVar RCV Id: RCV003809387
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015858_8015868dup , CM000679.2:g.8015858_8015868dup GRCh38
NC_000017.10:g.7919176_7919186dup , CM000679.1:g.7919176_7919186dup GRCh37
NC_000017.9:g.7859901_7859911dup NCBI36
NG_009092.1:g.18189_18199dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3043+17_3043+27dup MANE Select ENSP00000254854.4:n.3043+17_3043+27dup
ENST00000254854.4:c.3043+17_3043+27dup ENSP00000254854.4:n.3043+17_3043+27dup
NM_000180.3:c.3043+17_3043+27dup NP_000171.1:n.3043+17_3043+27dup
XM_011523816.1:c.3043+17_3043+27dup XP_011522118.1:n.3043+17_3043+27dup
NM_000180.4:c.3043+17_3043+27dup MANE Select NP_000171.1:n.3043+17_3043+27dup
Search 100 bp 5'
Search 100 bp 3'