Canonical Allele Identifier: CA1519891943
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210264_186210265delinsTC , CM000666.2:g.186210264_186210265delinsTC GRCh38
NC_000004.11:g.187131418_187131419delinsTC , CM000666.1:g.187131418_187131419delinsTC GRCh37
NC_000004.10:g.187368412_187368413delinsTC NCBI36
NG_007965.1:g.23745_23746delinsTC
NG_012095.2:g.6286_6287delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1406-205_1406-204delinsTC (CYP4V2) MANE Select ENSP00000368079.4:n.1406-205_1406-204delinsTC
ENST00000378802.4:c.1406-205_1406-204delinsTC (CYP4V2) ENSP00000368079.4:n.1406-205_1406-204delinsTC
ENST00000502665.1:n.641-205_641-204delinsTC (CYP4V2)
ENST00000507209.5:n.6104-205_6104-204delinsTC (CYP4V2)
ENST00000511608.5:c.201+992_201+993delinsTC (KLKB1)
ENST00000513354.5:n.496-205_496-204delinsTC (CYP4V2)
NM_207352.3:c.1406-205_1406-204delinsTC (CYP4V2) NP_997235.3:n.1406-205_1406-204delinsTC
XM_005262935.2:c.1403-205_1403-204delinsTC (CYP4V2) XP_005262992.1:n.1403-205_1403-204delinsTC
XM_006714184.2:c.1010-205_1010-204delinsTC (CYP4V2) XP_006714247.1:n.1010-205_1010-204delinsTC
XM_005262935.4:c.1403-205_1403-204delinsTC (CYP4V2) XP_005262992.1:n.1403-205_1403-204delinsTC
XM_017008037.1:c.1010-205_1010-204delinsTC (CYP4V2) XP_016863526.1:n.1010-205_1010-204delinsTC
NM_207352.4:c.1406-205_1406-204delinsTC (CYP4V2) MANE Select NP_997235.3:n.1406-205_1406-204delinsTC