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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:
CA2577240919
Gene: CXCR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218164270_218164274del , CM000664.2:g.218164270_218164274del
GRCh38
NC_000002.11:g.219028993_219028997del , CM000664.1:g.219028993_219028997del
GRCh37
NC_000002.10:g.218737238_218737242del
NCBI36
NG_011814.1:g.7721_7725del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295683.3:c.939_943del
MANE Select
ENSP00000295683.2:p.His314IlefsTer?
ENST00000295683.2:c.939_943del
ENSP00000295683.2:p.His314IlefsTer?
NM_000634.2:c.939_943del
NP_000625.1:p.His314IlefsTer?
NM_000634.3:c.939_943del
MANE Select
NP_000625.1:p.His314IlefsTer?
Search 100 bp 5'
Search 100 bp 3'