Canonical Allele Identifier: CA2672892772
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211695_186211696insTACA , CM000666.2:g.186211695_186211696insTACA GRCh38
NC_000004.11:g.187132849_187132850insTACA , CM000666.1:g.187132849_187132850insTACA GRCh37
NC_000004.10:g.187369843_187369844insTACA NCBI36
NG_007965.1:g.25176_25177insTACA
NG_012095.2:g.7717_7718insTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1054_*1055insTACA (CYP4V2) MANE Select ENSP00000368079.4:n.*1054_*1055insTACA
ENST00000502665.1:n.1867_1868insTACA (CYP4V2)
ENST00000507209.5:n.7330_7331insTACA (CYP4V2)
ENST00000511608.5:c.201+2423_201+2424insTACA (KLKB1)
NM_207352.3:c.*1054_*1055insTACA (CYP4V2) NP_997235.3:n.*1054_*1055insTACA
XM_005262935.2:c.*1054_*1055insTACA (CYP4V2) XP_005262992.1:n.*1054_*1055insTACA
XM_006714184.2:c.*1054_*1055insTACA (CYP4V2) XP_006714247.1:n.*1054_*1055insTACA
XM_011531931.1:c.-3014_-3013insTACA (KLKB1) XP_011530233.1:n.-3014_-3013insTACA
XM_011531932.1:c.-3264_-3263insTACA (KLKB1) XP_011530234.1:n.-3264_-3263insTACA
XM_011531933.1:c.-3078_-3077insTACA (KLKB1) XP_011530235.1:n.-3078_-3077insTACA
XM_005262935.4:c.*1054_*1055insTACA (CYP4V2) XP_005262992.1:n.*1054_*1055insTACA
XM_017008037.1:c.*1054_*1055insTACA (CYP4V2) XP_016863526.1:n.*1054_*1055insTACA
NM_207352.4:c.*1054_*1055insTACA (CYP4V2) MANE Select NP_997235.3:n.*1054_*1055insTACA