×
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:
CA2643680371
Gene: SDHB
HGNC
NCBI
Linked Data
gnomAD v4:
1-17053942-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17053943del , CM000663.2:g.17053943del
GRCh38
NC_000001.10:g.17380438del , CM000663.1:g.17380438del
GRCh37
NC_000001.9:g.17253025del
NCBI36
NG_012340.1:g.5228del , LRG_316:g.5228del
Transcript Alleles
HGVS
Amino-acid change
ENST00000375499.8:c.72+5del
MANE Select
ENSP00000364649.3:n.72+5del
ENST00000375499.7:c.72+5del
ENSP00000364649.3:n.72+5del
ENST00000466613.2:n.84+5del
ENST00000485515.5:n.60+5del
NM_003000.2:c.72+5del , LRG_316t1:c.72+5del
NP_002991.2:n.72+5del
NM_003000.3:c.72+5del
MANE Select
NP_002991.2:n.72+5del
Search 100 bp 5'
Search 100 bp 3'