×
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:
CA610021543
Gene:
Linked Data
dbSNP Id:
rs1432016346
gnomAD v2:
13-53968136-GTTGT-G
MyVariant Identifiers:
chr13:g.53968137_53968140del (hg19)
chr13:g.53394002_53394005del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.53394004_53394007del , CM000675.2:g.53394004_53394007del
GRCh38
NC_000013.10:g.53968139_53968142del , CM000675.1:g.53968139_53968142del
GRCh37
NC_000013.9:g.52866140_52866143del
NCBI36
Search 100 bp 5'
Search 100 bp 3'