Canonical Allele Identifier: CA2842537803
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211698delinsCACAC , CM000666.2:g.186211698delinsCACAC GRCh38
NC_000004.11:g.187132852delinsCACAC , CM000666.1:g.187132852delinsCACAC GRCh37
NC_000004.10:g.187369846delinsCACAC NCBI36
NG_007965.1:g.25179delinsCACAC
NG_012095.2:g.7720delinsCACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1057delinsCACAC (CYP4V2) MANE Select ENSP00000368079.4:n.*1057delinsCACAC
ENST00000502665.1:n.1870delinsCACAC (CYP4V2)
ENST00000507209.5:n.7333delinsCACAC (CYP4V2)
ENST00000511608.5:c.201+2426delinsCACAC (KLKB1)
NM_207352.3:c.*1057delinsCACAC (CYP4V2) NP_997235.3:n.*1057delinsCACAC
XM_005262935.2:c.*1057delinsCACAC (CYP4V2) XP_005262992.1:n.*1057delinsCACAC
XM_006714184.2:c.*1057delinsCACAC (CYP4V2) XP_006714247.1:n.*1057delinsCACAC
XM_011531931.1:c.-3011delinsCACAC (KLKB1) XP_011530233.1:n.-3011delinsCACAC
XM_011531932.1:c.-3261delinsCACAC (KLKB1) XP_011530234.1:n.-3261delinsCACAC
XM_011531933.1:c.-3075delinsCACAC (KLKB1) XP_011530235.1:n.-3075delinsCACAC
XM_005262935.4:c.*1057delinsCACAC (CYP4V2) XP_005262992.1:n.*1057delinsCACAC
XM_017008037.1:c.*1057delinsCACAC (CYP4V2) XP_016863526.1:n.*1057delinsCACAC
NM_207352.4:c.*1057delinsCACAC (CYP4V2) MANE Select NP_997235.3:n.*1057delinsCACAC