×
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:
CA2680351390
Gene: ARG1
HGNC
NCBI
Linked Data
gnomAD v4:
6-131573123-TTGACTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.131573125_131573130del , CM000668.2:g.131573125_131573130del
GRCh38
NC_000006.11:g.131894265_131894270del , CM000668.1:g.131894265_131894270del
GRCh37
NC_000006.10:g.131935958_131935963del
NCBI36
NG_007086.2:g.4901_4906del
NG_031860.1:g.60095_60100del
NG_031860.2:g.60095_60100del
Transcript Alleles
HGVS
Amino-acid change
ENST00000672052.1:n.305-3538_305-3533del
ENST00000672233.1:c.77-5986_77-5981del
ENSP00000499826.1:n.77-5986_77-5981del
ENST00000673234.1:c.77-3538_77-3533del
ENSP00000499885.1:n.77-3538_77-3533del
Search 100 bp 5'
Search 100 bp 3'