Canonical Allele Identifier: CA917387355
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1579978084

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210438_186210441del , CM000666.2:g.186210438_186210441del GRCh38
NC_000004.11:g.187131592_187131595del , CM000666.1:g.187131592_187131595del GRCh37
NC_000004.10:g.187368586_187368589del NCBI36
NG_007965.1:g.23919_23922del
NG_012095.2:g.6460_6463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1406-31_1406-28del (CYP4V2) MANE Select ENSP00000368079.4:n.1406-31_1406-28del
ENST00000378802.4:c.1406-31_1406-28del (CYP4V2) ENSP00000368079.4:n.1406-31_1406-28del
ENST00000502665.1:n.641-31_641-28del (CYP4V2)
ENST00000507209.5:n.6104-31_6104-28del (CYP4V2)
ENST00000511608.5:c.201+1166_201+1169del (KLKB1)
ENST00000513354.5:n.496-31_496-28del (CYP4V2)
NM_207352.3:c.1406-31_1406-28del (CYP4V2) NP_997235.3:n.1406-31_1406-28del
XM_005262935.2:c.1403-31_1403-28del (CYP4V2) XP_005262992.1:n.1403-31_1403-28del
XM_006714184.2:c.1010-31_1010-28del (CYP4V2) XP_006714247.1:n.1010-31_1010-28del
XM_005262935.4:c.1403-31_1403-28del (CYP4V2) XP_005262992.1:n.1403-31_1403-28del
XM_017008037.1:c.1010-31_1010-28del (CYP4V2) XP_016863526.1:n.1010-31_1010-28del
NM_207352.4:c.1406-31_1406-28del (CYP4V2) MANE Select NP_997235.3:n.1406-31_1406-28del