Canonical Allele Identifier: CA1519892546
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211506_186211507delinsGT , CM000666.2:g.186211506_186211507delinsGT GRCh38
NC_000004.11:g.187132660_187132661delinsGT , CM000666.1:g.187132660_187132661delinsGT GRCh37
NC_000004.10:g.187369654_187369655delinsGT NCBI36
NG_007965.1:g.24987_24988delinsGT
NG_012095.2:g.7528_7529delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*865_*866delinsGT (CYP4V2) MANE Select ENSP00000368079.4:n.*865_*866delinsGT
ENST00000502665.1:n.1678_1679delinsGT (CYP4V2)
ENST00000507209.5:n.7141_7142delinsGT (CYP4V2)
ENST00000511608.5:c.201+2234_201+2235delinsGT (KLKB1)
NM_207352.3:c.*865_*866delinsGT (CYP4V2) NP_997235.3:n.*865_*866delinsGT
XM_005262935.2:c.*865_*866delinsGT (CYP4V2) XP_005262992.1:n.*865_*866delinsGT
XM_006714184.2:c.*865_*866delinsGT (CYP4V2) XP_006714247.1:n.*865_*866delinsGT
XM_011531931.1:c.-3203_-3202delinsGT (KLKB1) XP_011530233.1:n.-3203_-3202delinsGT
XM_011531932.1:c.-3453_-3452delinsGT (KLKB1) XP_011530234.1:n.-3453_-3452delinsGT
XM_011531933.1:c.-3267_-3266delinsGT (KLKB1) XP_011530235.1:n.-3267_-3266delinsGT
XM_005262935.4:c.*865_*866delinsGT (CYP4V2) XP_005262992.1:n.*865_*866delinsGT
XM_017008037.1:c.*865_*866delinsGT (CYP4V2) XP_016863526.1:n.*865_*866delinsGT
NM_207352.4:c.*865_*866delinsGT (CYP4V2) MANE Select NP_997235.3:n.*865_*866delinsGT