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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
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Canonical Allele Identifier:
CA2576914467
Gene: XRCC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.43551484del , CM000681.2:g.43551484del
GRCh38
NC_000019.9:g.44055636del , CM000681.1:g.44055636del
GRCh37
NC_000019.8:g.48747476del
NCBI36
NG_033799.1:g.29095del , LRG_784:g.29095del
Transcript Alleles
HGVS
Amino-acid change
ENST00000262887.10:c.1199+87del
MANE Select
ENSP00000262887.5:n.1199+87del
ENST00000262887.9:c.1199+87del
ENSP00000262887.4:n.1199+87del
ENST00000543982.5:c.1106+87del
ENSP00000443671.1:n.1106+87del
NM_006297.2:c.1199+87del , LRG_784t1:c.1199+87del
NP_006288.2:n.1199+87del
NM_006297.3:c.1199+87del
MANE Select
NP_006288.2:n.1199+87del
Search 100 bp 5'
Search 100 bp 3'