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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
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Canonical Allele Identifier:
CA1454662342
Gene: GABRG1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1719732262
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.46085757_46085759del , CM000666.2:g.46085757_46085759del
GRCh38
NC_000004.11:g.46087774_46087776del , CM000666.1:g.46087774_46087776del
GRCh37
NC_000004.10:g.45782531_45782533del
NCBI36
NG_046964.1:g.43308_43310del
Transcript Alleles
HGVS
Amino-acid change
ENST00000295452.5:c.254-1705_254-1703del
MANE Select
ENSP00000295452.4:n.254-1705_254-1703del
ENST00000295452.4:c.254-1705_254-1703del
ENSP00000295452.4:n.254-1705_254-1703del
NM_173536.3:c.254-1705_254-1703del
NP_775807.2:n.254-1705_254-1703del
NM_173536.4:c.254-1705_254-1703del
MANE Select
NP_775807.2:n.254-1705_254-1703del
Search 100 bp 5'
Search 100 bp 3'