Canonical Allele Identifier: CA1519893758
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212702_186212704delinsCAA , CM000666.2:g.186212702_186212704delinsCAA GRCh38
NC_000004.11:g.187133856_187133858delinsCAA , CM000666.1:g.187133856_187133858delinsCAA GRCh37
NC_000004.10:g.187370850_187370852delinsCAA NCBI36
NG_007965.1:g.26183_26185delinsCAA
NG_012095.2:g.8724_8726delinsCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*2061_*2063delinsCAA (CYP4V2) MANE Select ENSP00000368079.4:n.*2061_*2063delinsCAA
ENST00000502665.1:n.2874_2876delinsCAA (CYP4V2)
ENST00000507209.5:n.8337_8339delinsCAA (CYP4V2)
ENST00000511608.5:c.201+3430_201+3432delinsCAA (KLKB1)
NM_207352.3:c.*2061_*2063delinsCAA (CYP4V2) NP_997235.3:n.*2061_*2063delinsCAA
XM_005262935.2:c.*2061_*2063delinsCAA (CYP4V2) XP_005262992.1:n.*2061_*2063delinsCAA
XM_006714184.2:c.*2061_*2063delinsCAA (CYP4V2) XP_006714247.1:n.*2061_*2063delinsCAA
XM_011531931.1:c.-2007_-2005delinsCAA (KLKB1) XP_011530233.1:n.-2007_-2005delinsCAA
XM_011531932.1:c.-2257_-2255delinsCAA (KLKB1) XP_011530234.1:n.-2257_-2255delinsCAA
XM_011531933.1:c.-2071_-2069delinsCAA (KLKB1) XP_011530235.1:n.-2071_-2069delinsCAA
XM_005262935.4:c.*2061_*2063delinsCAA (CYP4V2) XP_005262992.1:n.*2061_*2063delinsCAA
XM_017008037.1:c.*2061_*2063delinsCAA (CYP4V2) XP_016863526.1:n.*2061_*2063delinsCAA
NM_207352.4:c.*2061_*2063delinsCAA (CYP4V2) MANE Select NP_997235.3:n.*2061_*2063delinsCAA