×
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:
CA2577240918
Gene: CXCR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218164256_218164266del , CM000664.2:g.218164256_218164266del
GRCh38
NC_000002.11:g.219028979_219028989del , CM000664.1:g.219028979_219028989del
GRCh37
NC_000002.10:g.218737224_218737234del
NCBI36
NG_011814.1:g.7728_7738del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295683.3:c.946_956del
MANE Select
ENSP00000295683.2:p.Phe316ProfsTer?
ENST00000295683.2:c.946_956del
ENSP00000295683.2:p.Phe316ProfsTer?
NM_000634.2:c.946_956del
NP_000625.1:p.Phe316ProfsTer?
NM_000634.3:c.946_956del
MANE Select
NP_000625.1:p.Phe316ProfsTer?
Search 100 bp 5'
Search 100 bp 3'