×
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:
CA2678137345
Gene: TSBP1-AS1
HGNC
NCBI
Linked Data
gnomAD v4:
6-32255277-CGCCTGGCGGTTACGAGGAGGCCGCCTCCTGCTTGCCG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32255288_32255324del , CM000668.2:g.32255288_32255324del
GRCh38
NC_000006.11:g.32223065_32223101del , CM000668.1:g.32223065_32223101del
GRCh37
NC_000006.10:g.32331043_32331079del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_136244.1:n.116_152del
NR_136245.1:n.116_152del
NR_136246.1:n.116_152del
Search 100 bp 5'
Search 100 bp 3'