Canonical Allele Identifier: CA2764875321
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211294_186211295insC , CM000666.2:g.186211294_186211295insC GRCh38
NC_000004.11:g.187132448_187132449insC , CM000666.1:g.187132448_187132449insC GRCh37
NC_000004.10:g.187369442_187369443insC NCBI36
NG_007965.1:g.24775_24776insC
NG_012095.2:g.7316_7317insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*653_*654insC (CYP4V2) MANE Select ENSP00000368079.4:n.*653_*654insC
ENST00000502665.1:n.1466_1467insC (CYP4V2)
ENST00000507209.5:n.6929_6930insC (CYP4V2)
ENST00000511608.5:c.201+2022_201+2023insC (KLKB1)
NM_207352.3:c.*653_*654insC (CYP4V2) NP_997235.3:n.*653_*654insC
XM_005262935.2:c.*653_*654insC (CYP4V2) XP_005262992.1:n.*653_*654insC
XM_006714184.2:c.*653_*654insC (CYP4V2) XP_006714247.1:n.*653_*654insC
XM_011531931.1:c.-3415_-3414insC (KLKB1) XP_011530233.1:n.-3415_-3414insC
XM_011531932.1:c.-3665_-3664insC (KLKB1) XP_011530234.1:n.-3665_-3664insC
XM_011531933.1:c.-3479_-3478insC (KLKB1) XP_011530235.1:n.-3479_-3478insC
XM_005262935.4:c.*653_*654insC (CYP4V2) XP_005262992.1:n.*653_*654insC
XM_017008037.1:c.*653_*654insC (CYP4V2) XP_016863526.1:n.*653_*654insC
NM_207352.4:c.*653_*654insC (CYP4V2) MANE Select NP_997235.3:n.*653_*654insC