Canonical Allele Identifier: CA10620628
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 348342
dbSNP Id: rs869178465

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211698delinsCACACACACACACACACACACATACAC , CM000666.2:g.186211698delinsCACACACACACACACACACACATACAC GRCh38
NC_000004.11:g.187132852delinsCACACACACACACACACACACATACAC , CM000666.1:g.187132852delinsCACACACACACACACACACACATACAC GRCh37
NC_000004.10:g.187369846delinsCACACACACACACACACACACATACAC NCBI36
NG_007965.1:g.25179delinsCACACACACACACACACACACATACAC
NG_012095.2:g.7720delinsCACACACACACACACACACACATACAC

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) MANE Select ENSP00000368079.4:n.*1057delinsCACACACACA...
ENST00000502665.1:n.1870delinsCACACACACACACACACACACATACAC (CYP4V2)
ENST00000507209.5:n.7333delinsCACACACACACACACACACACATACAC (CYP4V2)
ENST00000511608.5:c.201+2426delinsCACACACACACACACACACACATACAC (KLKB1)
NM_207352.3:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) NP_997235.3:n.*1057delinsCACACACACACACACA...
XM_005262935.2:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) XP_005262992.1:n.*1057delinsCACACACACACAC...
XM_006714184.2:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) XP_006714247.1:n.*1057delinsCACACACACACAC...
XM_011531931.1:c.-3011delinsCACACACACACACACACACACATACAC (KLKB1) XP_011530233.1:n.-3011delinsCACACACACACAC...
XM_011531932.1:c.-3261delinsCACACACACACACACACACACATACAC (KLKB1) XP_011530234.1:n.-3261delinsCACACACACACAC...
XM_011531933.1:c.-3075delinsCACACACACACACACACACACATACAC (KLKB1) XP_011530235.1:n.-3075delinsCACACACACACAC...
XM_005262935.4:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) XP_005262992.1:n.*1057delinsCACACACACACAC...
XM_017008037.1:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) XP_016863526.1:n.*1057delinsCACACACACACAC...
NM_207352.4:c.*1057delinsCACACACACACACACACACACATACAC (CYP4V2) MANE Select NP_997235.3:n.*1057delinsCACACACACACACACA...