×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1420511348
Gene: GHSR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1737486231
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.172447335del , CM000665.2:g.172447335del
GRCh38
NC_000003.11:g.172165125del , CM000665.1:g.172165125del
GRCh37
NC_000003.10:g.173647819del
NCBI36
NG_021159.1:g.6122del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241256.3:c.796+283del
MANE Select
ENSP00000241256.2:n.796+283del
ENST00000241256.2:c.796+283del
ENSP00000241256.2:n.796+283del
NM_198407.2:c.796+283del
MANE Select
NP_940799.1:n.796+283del
Search 100 bp 5'
Search 100 bp 3'