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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:
CA1156101889
Gene: SDHB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17053948_17053949delinsCT , CM000663.2:g.17053948_17053949delinsCT
GRCh38
NC_000001.10:g.17380443_17380444delinsCT , CM000663.1:g.17380443_17380444delinsCT
GRCh37
NC_000001.9:g.17253030_17253031delinsCT
NCBI36
NG_012340.1:g.5222_5223delinsAG , LRG_316:g.5222_5223delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000375499.8:c.71_72delinsAG
MANE Select
ENSP00000364649.3:p.Gln24=
ENST00000375499.7:c.71_72delinsAG
ENSP00000364649.3:p.Gln24=
ENST00000466613.2:n.83_84delinsAG
ENST00000485515.5:n.59_60delinsAG
NM_003000.2:c.71_72delinsAG , LRG_316t1:c.71_72delinsAG
NP_002991.2:p.Gln24=
NM_003000.3:c.71_72delinsAG
MANE Select
NP_002991.2:p.Gln24=
Search 100 bp 5'
Search 100 bp 3'