Canonical Allele Identifier: CA1519891464
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209201_186209202delinsTC , CM000666.2:g.186209201_186209202delinsTC GRCh38
NC_000004.11:g.187130355_187130356delinsTC , CM000666.1:g.187130355_187130356delinsTC GRCh37
NC_000004.10:g.187367349_187367350delinsTC NCBI36
NG_007965.1:g.22682_22683delinsTC
NG_012095.2:g.5223_5224delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1334_1335delinsTC (CYP4V2) MANE Select ENSP00000368079.4:p.Phe445=
ENST00000378802.4:c.1334_1335delinsTC (CYP4V2) ENSP00000368079.4:p.Phe445=
ENST00000502665.1:n.569_570delinsTC (CYP4V2)
ENST00000507209.5:n.6032_6033delinsTC (CYP4V2)
ENST00000511608.5:c.130_131delinsTC (KLKB1)
ENST00000513354.5:n.424_425delinsTC (CYP4V2)
NM_207352.3:c.1334_1335delinsTC (CYP4V2) NP_997235.3:p.Phe445=
XM_005262935.2:c.1331_1332delinsTC (CYP4V2) XP_005262992.1:p.Phe444=
XM_006714184.2:c.938_939delinsTC (CYP4V2) XP_006714247.1:p.Phe313=
XM_005262935.4:c.1331_1332delinsTC (CYP4V2) XP_005262992.1:p.Phe444=
XM_017008037.1:c.938_939delinsTC (CYP4V2) XP_016863526.1:p.Phe313=
NM_207352.4:c.1334_1335delinsTC (CYP4V2) MANE Select NP_997235.3:p.Phe445=