Canonical Allele Identifier: CA1519893856
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212797_186212799delinsCAG , CM000666.2:g.186212797_186212799delinsCAG GRCh38
NC_000004.11:g.187133951_187133953delinsCAG , CM000666.1:g.187133951_187133953delinsCAG GRCh37
NC_000004.10:g.187370945_187370947delinsCAG NCBI36
NG_007965.1:g.26278_26280delinsCAG
NG_012095.2:g.8819_8821delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2156_*2158delinsCAG (CYP4V2) MANE Select ENSP00000368079.4:n.*2156_*2158delinsCAG
ENST00000502665.1:n.2969_2971delinsCAG (CYP4V2)
ENST00000507209.5:n.8432_8434delinsCAG (CYP4V2)
ENST00000511608.5:c.201+3525_201+3527delinsCAG (KLKB1)
NM_207352.3:c.*2156_*2158delinsCAG (CYP4V2) NP_997235.3:n.*2156_*2158delinsCAG
XM_005262935.2:c.*2156_*2158delinsCAG (CYP4V2) XP_005262992.1:n.*2156_*2158delinsCAG
XM_006714184.2:c.*2156_*2158delinsCAG (CYP4V2) XP_006714247.1:n.*2156_*2158delinsCAG
XM_011531931.1:c.-1912_-1910delinsCAG (KLKB1) XP_011530233.1:n.-1912_-1910delinsCAG
XM_011531932.1:c.-2162_-2160delinsCAG (KLKB1) XP_011530234.1:n.-2162_-2160delinsCAG
XM_011531933.1:c.-1976_-1974delinsCAG (KLKB1) XP_011530235.1:n.-1976_-1974delinsCAG
XM_005262935.4:c.*2156_*2158delinsCAG (CYP4V2) XP_005262992.1:n.*2156_*2158delinsCAG
XM_017008037.1:c.*2156_*2158delinsCAG (CYP4V2) XP_016863526.1:n.*2156_*2158delinsCAG
NM_207352.4:c.*2156_*2158delinsCAG (CYP4V2) MANE Select NP_997235.3:n.*2156_*2158delinsCAG