×
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:
CA2406336566
Gene: XRCC6
HGNC
NCBI
Linked Data
dbSNP Id:
rs2067598379
gnomAD v4:
22-41621259-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.41621260del , CM000684.2:g.41621260del
GRCh38
NC_000022.10:g.42017264del , CM000684.1:g.42017264del
GRCh37
NC_000022.9:g.40347210del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000360079.7:c.-101del
ENSP00000353192.3:n.-101del
ENST00000428575.6:c.-138del
ENSP00000403679.3:n.-138del
NM_001288977.1:c.-101del
NP_001275906.1:n.-101del
NM_001288978.1:c.-138del
NP_001275907.1:n.-138del
NM_001469.4:c.-101del
NP_001460.1:n.-101del
Search 100 bp 5'
Search 100 bp 3'