Canonical Allele Identifier: CA1519893772
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212715_186212717delinsCAT , CM000666.2:g.186212715_186212717delinsCAT GRCh38
NC_000004.11:g.187133869_187133871delinsCAT , CM000666.1:g.187133869_187133871delinsCAT GRCh37
NC_000004.10:g.187370863_187370865delinsCAT NCBI36
NG_007965.1:g.26196_26198delinsCAT
NG_012095.2:g.8737_8739delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2074_*2076delinsCAT (CYP4V2) MANE Select ENSP00000368079.4:n.*2074_*2076delinsCAT
ENST00000502665.1:n.2887_2889delinsCAT (CYP4V2)
ENST00000507209.5:n.8350_8352delinsCAT (CYP4V2)
ENST00000511608.5:c.201+3443_201+3445delinsCAT (KLKB1)
NM_207352.3:c.*2074_*2076delinsCAT (CYP4V2) NP_997235.3:n.*2074_*2076delinsCAT
XM_005262935.2:c.*2074_*2076delinsCAT (CYP4V2) XP_005262992.1:n.*2074_*2076delinsCAT
XM_006714184.2:c.*2074_*2076delinsCAT (CYP4V2) XP_006714247.1:n.*2074_*2076delinsCAT
XM_011531931.1:c.-1994_-1992delinsCAT (KLKB1) XP_011530233.1:n.-1994_-1992delinsCAT
XM_011531932.1:c.-2244_-2242delinsCAT (KLKB1) XP_011530234.1:n.-2244_-2242delinsCAT
XM_011531933.1:c.-2058_-2056delinsCAT (KLKB1) XP_011530235.1:n.-2058_-2056delinsCAT
XM_005262935.4:c.*2074_*2076delinsCAT (CYP4V2) XP_005262992.1:n.*2074_*2076delinsCAT
XM_017008037.1:c.*2074_*2076delinsCAT (CYP4V2) XP_016863526.1:n.*2074_*2076delinsCAT
NM_207352.4:c.*2074_*2076delinsCAT (CYP4V2) MANE Select NP_997235.3:n.*2074_*2076delinsCAT