×
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:
CA919890156
Gene: SOX9
HGNC
NCBI
Linked Data
dbSNP Id:
rs1567911046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.72123415_72123425del , CM000679.2:g.72123415_72123425del
GRCh38
NC_000017.10:g.70119556_70119566del , CM000679.1:g.70119556_70119566del
GRCh37
NC_000017.9:g.67631151_67631161del
NCBI36
NG_012490.1:g.7396_7406del
Transcript Alleles
HGVS
Amino-acid change
ENST00000245479.3:c.686-128_686-118del
MANE Select
ENSP00000245479.2:n.686-128_686-118del
ENST00000245479.2:c.686-128_686-118del
ENSP00000245479.2:n.686-128_686-118del
NM_000346.3:c.686-128_686-118del
NP_000337.1:n.686-128_686-118del
NM_000346.4:c.686-128_686-118del
MANE Select
NP_000337.1:n.686-128_686-118del
Search 100 bp 5'
Search 100 bp 3'