Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA932628189

Gene: GUCY2GP HGNC NCBI

Linked Data

dbSNP Id: rs1848748092

gnomAD v3: 10-112318992-GT-G

gnomAD v4: 10-112318992-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.112318993del , CM000672.2:g.112318993del	GRCh38
NC_000010.10:g.114078751del , CM000672.1:g.114078751del	GRCh37
NC_000010.9:g.114068741del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479705.5:n.2245-937del
ENST00000490269.1:n.461-937del
NR_028134.1:n.1994-937del

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