×
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:
CA645372599
Gene: TXNL4B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221526
ClinVar RCV Id:
RCV000207095
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.72059151_72063259del , CM000678.2:g.72059151_72063259del
GRCh38
NC_000016.9:g.72093050_72097158del , CM000678.1:g.72093050_72097158del
GRCh37
NC_000016.8:g.70650551_70654659del
NCBI36
NG_030311.1:g.926_5034del
Transcript Alleles
HGVS
Amino-acid change
ENST00000562153.5:c.285-18901_285-14793del
ENSP00000454635.1:n.285-18901_285-14793de...
XM_017023377.2:c.285-18901_285-14793del
XP_016878866.1:n.285-18901_285-14793del
Search 100 bp 5'
Search 100 bp 3'