Canonical Allele Identifier: CA1519892156
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210693_186210694delinsAT , CM000666.2:g.186210693_186210694delinsAT GRCh38
NC_000004.11:g.187131847_187131848delinsAT , CM000666.1:g.187131847_187131848delinsAT GRCh37
NC_000004.10:g.187368841_187368842delinsAT NCBI36
NG_007965.1:g.24174_24175delinsAT
NG_012095.2:g.6715_6716delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*52_*53delinsAT (CYP4V2) MANE Select ENSP00000368079.4:n.*52_*53delinsAT
ENST00000378802.4:c.*52_*53delinsAT (CYP4V2) ENSP00000368079.4:n.*52_*53delinsAT
ENST00000502665.1:n.865_866delinsAT (CYP4V2)
ENST00000507209.5:n.6328_6329delinsAT (CYP4V2)
ENST00000511608.5:c.201+1421_201+1422delinsAT (KLKB1)
ENST00000513354.5:n.720_721delinsAT (CYP4V2)
NM_207352.3:c.*52_*53delinsAT (CYP4V2) NP_997235.3:n.*52_*53delinsAT
XM_005262935.2:c.*52_*53delinsAT (CYP4V2) XP_005262992.1:n.*52_*53delinsAT
XM_006714184.2:c.*52_*53delinsAT (CYP4V2) XP_006714247.1:n.*52_*53delinsAT
XM_005262935.4:c.*52_*53delinsAT (CYP4V2) XP_005262992.1:n.*52_*53delinsAT
XM_017008037.1:c.*52_*53delinsAT (CYP4V2) XP_016863526.1:n.*52_*53delinsAT
NM_207352.4:c.*52_*53delinsAT (CYP4V2) MANE Select NP_997235.3:n.*52_*53delinsAT