Canonical Allele Identifier: CA2508811508
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209273_186209274insGAATGATGACGGCTTCAGTGCCTTTTAGAAC , CM000666.2:g.186209273_186209274insGAATGATGACGGCTTCAGTGCCTTTTAGAAC GRCh38
NC_000004.11:g.187130427_187130428insGAATGATGACGGCTTCAGTGCCTTTTAGAAC , CM000666.1:g.187130427_187130428insGAATGATGACGGCTTCAGTGCCTTTTAGAAC GRCh37
NC_000004.10:g.187367421_187367422insGAATGATGACGGCTTCAGTGCCTTTTAGAAC NCBI36
NG_007965.1:g.22754_22755insGAATGATGACGGCTTCAGTGCCTTTTAGAAC
NG_012095.2:g.5295_5296insGAATGATGACGGCTTCAGTGCCTTTTAGAAC

Transcript Alleles

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