Canonical Allele Identifier: CA1519892663
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211664_186211670delinsTACACAC , CM000666.2:g.186211664_186211670delinsTACACAC GRCh38
NC_000004.11:g.187132818_187132824delinsTACACAC , CM000666.1:g.187132818_187132824delinsTACACAC GRCh37
NC_000004.10:g.187369812_187369818delinsTACACAC NCBI36
NG_007965.1:g.25145_25151delinsTACACAC
NG_012095.2:g.7686_7692delinsTACACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1023_*1029delinsTACACAC (CYP4V2) MANE Select ENSP00000368079.4:n.*1023_*1029delinsTACACAC
ENST00000502665.1:n.1836_1842delinsTACACAC (CYP4V2)
ENST00000507209.5:n.7299_7305delinsTACACAC (CYP4V2)
ENST00000511608.5:c.201+2392_201+2398delinsTACACAC (KLKB1)
NM_207352.3:c.*1023_*1029delinsTACACAC (CYP4V2) NP_997235.3:n.*1023_*1029delinsTACACAC
XM_005262935.2:c.*1023_*1029delinsTACACAC (CYP4V2) XP_005262992.1:n.*1023_*1029delinsTACACAC
XM_006714184.2:c.*1023_*1029delinsTACACAC (CYP4V2) XP_006714247.1:n.*1023_*1029delinsTACACAC
XM_011531931.1:c.-3045_-3039delinsTACACAC (KLKB1) XP_011530233.1:n.-3045_-3039delinsTACACAC
XM_011531932.1:c.-3295_-3289delinsTACACAC (KLKB1) XP_011530234.1:n.-3295_-3289delinsTACACAC
XM_011531933.1:c.-3109_-3103delinsTACACAC (KLKB1) XP_011530235.1:n.-3109_-3103delinsTACACAC
XM_005262935.4:c.*1023_*1029delinsTACACAC (CYP4V2) XP_005262992.1:n.*1023_*1029delinsTACACAC
XM_017008037.1:c.*1023_*1029delinsTACACAC (CYP4V2) XP_016863526.1:n.*1023_*1029delinsTACACAC
NM_207352.4:c.*1023_*1029delinsTACACAC (CYP4V2) MANE Select NP_997235.3:n.*1023_*1029delinsTACACAC