×
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:
CA1458504841
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54228515_54228516delinsTG , CM000666.2:g.54228515_54228516delinsTG
GRCh38
NC_000004.11:g.55094682_55094683delinsTG , CM000666.1:g.55094682_55094683delinsTG
GRCh37
NC_000004.10:g.54789439_54789440delinsTG
NCBI36
NG_009250.1:g.4419_4420delinsTG , LRG_309:g.4419_4420delinsTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507166.5:c.1018-46410_1018-46409delinsTG
ENSP00000423325.1:n.1018-46410_1018-46409delinsTG
Search 100 bp 5'
Search 100 bp 3'