Canonical Allele Identifier: CA2246053207
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1043285
ClinVar RCV Id: RCV001347373
dbSNP Id: rs952193754
gnomAD v4: 17-8003272-G-GGCCGCCCGCCTGGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003285_8003299dup , CM000679.2:g.8003285_8003299dup GRCh38
NC_000017.10:g.7906603_7906617dup , CM000679.1:g.7906603_7906617dup GRCh37
NC_000017.9:g.7847328_7847342dup NCBI36
NG_009092.1:g.5616_5630dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.238_252dup MANE Select ENSP00000254854.4:p.Leu84_Asn85insAlaAlaAlaArgLeu
ENST00000254854.4:c.238_252dup ENSP00000254854.4:p.Leu84_Asn85insAlaAlaAlaArgLeu
NM_000180.3:c.238_252dup NP_000171.1:p.Leu84_Asn85insAlaAlaAlaArgLeu
XM_011523816.1:c.238_252dup XP_011522118.1:p.Leu84_Asn85insAlaAlaAlaArgLeu
NM_000180.4:c.238_252dup MANE Select NP_000171.1:p.Leu84_Asn85insAlaAlaAlaArgLeu
Search 100 bp 5'
Search 100 bp 3'