×
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:
CA959793298
Gene:
Linked Data
gnomAD v3:
13-104826300-ACT-A
gnomAD v4:
13-104826300-ACT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.104826301_104826302del , CM000675.2:g.104826301_104826302del
GRCh38
NC_000013.10:g.105478652_105478653del , CM000675.1:g.105478652_105478653del
GRCh37
NC_000013.9:g.104276653_104276654del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749993.1:n.242-2515_242-2514del
XR_001749994.1:n.243+10901_243+10902del
XR_001749995.1:n.253+10901_253+10902del
XR_001749996.1:n.1897-2754_1897-2753del
Search 100 bp 5'
Search 100 bp 3'