Canonical Allele Identifier: CA2764868899
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209339_186209340insACA , CM000666.2:g.186209339_186209340insACA GRCh38
NC_000004.11:g.187130493_187130494insACA , CM000666.1:g.187130493_187130494insACA GRCh37
NC_000004.10:g.187367487_187367488insACA NCBI36
NG_007965.1:g.22820_22821insACA
NG_012095.2:g.5361_5362insACA

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+67_1405+68insACA (CYP4V2) MANE Select ENSP00000368079.4:n.1405+67_1405+68insACA...
ENST00000378802.4:c.1405+67_1405+68insACA (CYP4V2) ENSP00000368079.4:n.1405+67_1405+68insACA...
ENST00000502665.1:n.640+67_640+68insACA (CYP4V2)
ENST00000507209.5:n.6103+67_6103+68insACA (CYP4V2)
ENST00000511608.5:c.201+67_201+68insACA (KLKB1)
ENST00000513354.5:n.495+67_495+68insACA (CYP4V2)
NM_207352.3:c.1405+67_1405+68insACA (CYP4V2) NP_997235.3:n.1405+67_1405+68insACA
XM_005262935.2:c.1402+67_1402+68insACA (CYP4V2) XP_005262992.1:n.1402+67_1402+68insACA
XM_006714184.2:c.1009+67_1009+68insACA (CYP4V2) XP_006714247.1:n.1009+67_1009+68insACA
XM_005262935.4:c.1402+67_1402+68insACA (CYP4V2) XP_005262992.1:n.1402+67_1402+68insACA
XM_017008037.1:c.1009+67_1009+68insACA (CYP4V2) XP_016863526.1:n.1009+67_1009+68insACA
NM_207352.4:c.1405+67_1405+68insACA (CYP4V2) MANE Select NP_997235.3:n.1405+67_1405+68insACA