Canonical Allele Identifier: CA119355

Linked Data

ClinVar Variation Id: 8184
dbSNP Id: rs333

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373456_46373487del , CM000665.2:g.46373456_46373487del GRCh38
NC_000003.11:g.46414947_46414978del , CM000665.1:g.46414947_46414978del GRCh37
NC_000003.10:g.46389951_46389982del NCBI36
NG_012637.1:g.8315_8346del

Transcript Alleles

HGVS Amino-acid change
ENST00000292303.5:c.554_585del (CCR5) MANE Select ENSP00000292303.4:p.Ser185IlefsTer?
ENST00000292303.4:c.554_585del (CCR5) ENSP00000292303.4:p.Ser185IlefsTer?
ENST00000445772.1:c.554_585del (CCR5) ENSP00000404881.1:p.Ser185IlefsTer?
NM_000579.3:c.554_585del (CCR5) NP_000570.1:p.Ser185IlefsTer?
NM_001100168.1:c.554_585del (CCR5) NP_001093638.1:p.Ser185IlefsTer?
NR_125406.1:n.392-2067_392-2036del (CCR5AS)
NM_000579.4:c.554_585del (CCR5) NP_000570.1:p.Ser185IlefsTer?
NM_001100168.2:c.554_585del (CCR5) NP_001093638.1:p.Ser185IlefsTer?
NM_001394783.1:c.554_585del (CCR5) MANE Select NP_001381712.1:p.Ser185IlefsTer?