×
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:
CA846350226
Gene: TNFRSF11B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1388279435
gnomAD v3:
8-118947604-TA-T
gnomAD v4:
8-118947604-TA-T
MyVariant Identifiers:
chr8:g.119959844del (hg19)
chr8:g.118947605del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.118947611del , CM000670.2:g.118947611del
GRCh38
NC_000008.10:g.119959850del , CM000670.1:g.119959850del
GRCh37
NC_000008.9:g.120029031del
NCBI36
NG_012202.1:g.9540del
Transcript Alleles
HGVS
Amino-acid change
ENST00000297350.9:c.30+4187del
MANE Select
ENSP00000297350.4:n.30+4187del
ENST00000297350.8:c.30+4187del
ENSP00000297350.4:n.30+4187del
ENST00000517352.1:c.30+4187del
ENSP00000427924.1:n.30+4187del
NM_002546.3:c.30+4187del
NP_002537.3:n.30+4187del
NM_002546.4:c.30+4187del
MANE Select
NP_002537.3:n.30+4187del
Search 100 bp 5'
Search 100 bp 3'