Canonical Allele Identifier: CA1519892049
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1736675316

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210467_186210468del , CM000666.2:g.186210467_186210468del GRCh38
NC_000004.11:g.187131621_187131622del , CM000666.1:g.187131621_187131622del GRCh37
NC_000004.10:g.187368615_187368616del NCBI36
NG_007965.1:g.23948_23949del
NG_012095.2:g.6489_6490del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1406-2_1406-1del (CYP4V2) MANE Select ENSP00000368079.4:n.1406-2_1406-1del
ENST00000378802.4:c.1406-2_1406-1del (CYP4V2) ENSP00000368079.4:n.1406-2_1406-1del
ENST00000502665.1:n.641-2_641-1del (CYP4V2)
ENST00000507209.5:n.6104-2_6104-1del (CYP4V2)
ENST00000511608.5:c.201+1195_201+1196del (KLKB1)
ENST00000513354.5:n.496-2_496-1del (CYP4V2)
NM_207352.3:c.1406-2_1406-1del (CYP4V2) NP_997235.3:n.1406-2_1406-1del
XM_005262935.2:c.1403-2_1403-1del (CYP4V2) XP_005262992.1:n.1403-2_1403-1del
XM_006714184.2:c.1010-2_1010-1del (CYP4V2) XP_006714247.1:n.1010-2_1010-1del
XM_005262935.4:c.1403-2_1403-1del (CYP4V2) XP_005262992.1:n.1403-2_1403-1del
XM_017008037.1:c.1010-2_1010-1del (CYP4V2) XP_016863526.1:n.1010-2_1010-1del
NM_207352.4:c.1406-2_1406-1del (CYP4V2) MANE Select NP_997235.3:n.1406-2_1406-1del