Canonical Allele Identifier: CA1519892621
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211656_186211670delinsTACACACATACACAC , CM000666.2:g.186211656_186211670delinsTACACACATACACAC GRCh38
NC_000004.11:g.187132810_187132824delinsTACACACATACACAC , CM000666.1:g.187132810_187132824delinsTACACACATACACAC GRCh37
NC_000004.10:g.187369804_187369818delinsTACACACATACACAC NCBI36
NG_007965.1:g.25137_25151delinsTACACACATACACAC
NG_012095.2:g.7678_7692delinsTACACACATACACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) MANE Select ENSP00000368079.4:n.*1015_*1029delinsTACACACATACACAC
ENST00000502665.1:n.1828_1842delinsTACACACATACACAC (CYP4V2)
ENST00000507209.5:n.7291_7305delinsTACACACATACACAC (CYP4V2)
ENST00000511608.5:c.201+2384_201+2398delinsTACACACATACACAC (KLKB1)
NM_207352.3:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) NP_997235.3:n.*1015_*1029delinsTACACACATACACAC
XM_005262935.2:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) XP_005262992.1:n.*1015_*1029delinsTACACACATACACAC
XM_006714184.2:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) XP_006714247.1:n.*1015_*1029delinsTACACACATACACAC
XM_011531931.1:c.-3053_-3039delinsTACACACATACACAC (KLKB1) XP_011530233.1:n.-3053_-3039delinsTACACACATACACAC
XM_011531932.1:c.-3303_-3289delinsTACACACATACACAC (KLKB1) XP_011530234.1:n.-3303_-3289delinsTACACACATACACAC
XM_011531933.1:c.-3117_-3103delinsTACACACATACACAC (KLKB1) XP_011530235.1:n.-3117_-3103delinsTACACACATACACAC
XM_005262935.4:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) XP_005262992.1:n.*1015_*1029delinsTACACACATACACAC
XM_017008037.1:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) XP_016863526.1:n.*1015_*1029delinsTACACACATACACAC
NM_207352.4:c.*1015_*1029delinsTACACACATACACAC (CYP4V2) MANE Select NP_997235.3:n.*1015_*1029delinsTACACACATACACAC