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: CA932628184

Gene: GUCY2GP HGNC NCBI

Linked Data

dbSNP Id: rs1848747768

gnomAD v3: 10-112318952-TG-T

gnomAD v4: 10-112318952-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.112318954del , CM000672.2:g.112318954del	GRCh38
NC_000010.10:g.114078712del , CM000672.1:g.114078712del	GRCh37
NC_000010.9:g.114068702del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479705.5:n.2245-897del
ENST00000490269.1:n.461-897del
NR_028134.1:n.1994-897del

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