Canonical Allele Identifier: CA1519892458
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211302_186211303delinsCA , CM000666.2:g.186211302_186211303delinsCA GRCh38
NC_000004.11:g.187132456_187132457delinsCA , CM000666.1:g.187132456_187132457delinsCA GRCh37
NC_000004.10:g.187369450_187369451delinsCA NCBI36
NG_007965.1:g.24783_24784delinsCA
NG_012095.2:g.7324_7325delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*661_*662delinsCA (CYP4V2) MANE Select ENSP00000368079.4:n.*661_*662delinsCA
ENST00000502665.1:n.1474_1475delinsCA (CYP4V2)
ENST00000507209.5:n.6937_6938delinsCA (CYP4V2)
ENST00000511608.5:c.201+2030_201+2031delinsCA (KLKB1)
NM_207352.3:c.*661_*662delinsCA (CYP4V2) NP_997235.3:n.*661_*662delinsCA
XM_005262935.2:c.*661_*662delinsCA (CYP4V2) XP_005262992.1:n.*661_*662delinsCA
XM_006714184.2:c.*661_*662delinsCA (CYP4V2) XP_006714247.1:n.*661_*662delinsCA
XM_011531931.1:c.-3407_-3406delinsCA (KLKB1) XP_011530233.1:n.-3407_-3406delinsCA
XM_011531932.1:c.-3657_-3656delinsCA (KLKB1) XP_011530234.1:n.-3657_-3656delinsCA
XM_011531933.1:c.-3471_-3470delinsCA (KLKB1) XP_011530235.1:n.-3471_-3470delinsCA
XM_005262935.4:c.*661_*662delinsCA (CYP4V2) XP_005262992.1:n.*661_*662delinsCA
XM_017008037.1:c.*661_*662delinsCA (CYP4V2) XP_016863526.1:n.*661_*662delinsCA
NM_207352.4:c.*661_*662delinsCA (CYP4V2) MANE Select NP_997235.3:n.*661_*662delinsCA