Canonical Allele Identifier: CA1519892535
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211471_186211472delinsGC , CM000666.2:g.186211471_186211472delinsGC GRCh38
NC_000004.11:g.187132625_187132626delinsGC , CM000666.1:g.187132625_187132626delinsGC GRCh37
NC_000004.10:g.187369619_187369620delinsGC NCBI36
NG_007965.1:g.24952_24953delinsGC
NG_012095.2:g.7493_7494delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*830_*831delinsGC (CYP4V2) MANE Select ENSP00000368079.4:n.*830_*831delinsGC
ENST00000502665.1:n.1643_1644delinsGC (CYP4V2)
ENST00000507209.5:n.7106_7107delinsGC (CYP4V2)
ENST00000511608.5:c.201+2199_201+2200delinsGC (KLKB1)
NM_207352.3:c.*830_*831delinsGC (CYP4V2) NP_997235.3:n.*830_*831delinsGC
XM_005262935.2:c.*830_*831delinsGC (CYP4V2) XP_005262992.1:n.*830_*831delinsGC
XM_006714184.2:c.*830_*831delinsGC (CYP4V2) XP_006714247.1:n.*830_*831delinsGC
XM_011531931.1:c.-3238_-3237delinsGC (KLKB1) XP_011530233.1:n.-3238_-3237delinsGC
XM_011531932.1:c.-3488_-3487delinsGC (KLKB1) XP_011530234.1:n.-3488_-3487delinsGC
XM_011531933.1:c.-3302_-3301delinsGC (KLKB1) XP_011530235.1:n.-3302_-3301delinsGC
XM_005262935.4:c.*830_*831delinsGC (CYP4V2) XP_005262992.1:n.*830_*831delinsGC
XM_017008037.1:c.*830_*831delinsGC (CYP4V2) XP_016863526.1:n.*830_*831delinsGC
NM_207352.4:c.*830_*831delinsGC (CYP4V2) MANE Select NP_997235.3:n.*830_*831delinsGC