×
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:
CA2144473272
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.68807223_68807224delinsAC , CM000676.2:g.68807223_68807224delinsAC
GRCh38
NC_000014.8:g.69273940_69273941delinsAC , CM000676.1:g.69273940_69273941delinsAC
GRCh37
NC_000014.7:g.68343693_68343694delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011537441.1:c.673-570_673-569delinsGT
XP_011535743.1:n.673-570_673-569delinsGT
XM_011537442.1:c.673-570_673-569delinsGT
XP_011535744.1:n.673-570_673-569delinsGT
XM_011537443.1:c.673-570_673-569delinsGT
XP_011535745.1:n.673-570_673-569delinsGT
Search 100 bp 5'
Search 100 bp 3'