×
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:
CA2691057946
Gene:
Linked Data
gnomAD v4:
9-104928267-GT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.104928270del , CM000671.2:g.104928270del
GRCh38
NC_000009.11:g.107690551del , CM000671.1:g.107690551del
GRCh37
NC_000009.10:g.106730372del
NCBI36
NG_007981.1:g.4888del
Transcript Alleles
HGVS
Amino-acid change
XR_930204.1:n.734+360del
XR_930204.2:n.115+360del
Search 100 bp 5'
Search 100 bp 3'