Canonical Allele Identifier: CA1519892152
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210679_186210687delinsCTTTATTTT , CM000666.2:g.186210679_186210687delinsCTTTATTTT GRCh38
NC_000004.11:g.187131833_187131841delinsCTTTATTTT , CM000666.1:g.187131833_187131841delinsCTTTATTTT GRCh37
NC_000004.10:g.187368827_187368835delinsCTTTATTTT NCBI36
NG_007965.1:g.24160_24168delinsCTTTATTTT
NG_012095.2:g.6701_6709delinsCTTTATTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*38_*46delinsCTTTATTTT (CYP4V2) MANE Select ENSP00000368079.4:n.*38_*46delinsCTTTATTTT
ENST00000378802.4:c.*38_*46delinsCTTTATTTT (CYP4V2) ENSP00000368079.4:n.*38_*46delinsCTTTATTTT
ENST00000502665.1:n.851_859delinsCTTTATTTT (CYP4V2)
ENST00000507209.5:n.6314_6322delinsCTTTATTTT (CYP4V2)
ENST00000511608.5:c.201+1407_201+1415delinsCTTTATTTT (KLKB1)
ENST00000513354.5:n.706_714delinsCTTTATTTT (CYP4V2)
NM_207352.3:c.*38_*46delinsCTTTATTTT (CYP4V2) NP_997235.3:n.*38_*46delinsCTTTATTTT
XM_005262935.2:c.*38_*46delinsCTTTATTTT (CYP4V2) XP_005262992.1:n.*38_*46delinsCTTTATTTT
XM_006714184.2:c.*38_*46delinsCTTTATTTT (CYP4V2) XP_006714247.1:n.*38_*46delinsCTTTATTTT
XM_005262935.4:c.*38_*46delinsCTTTATTTT (CYP4V2) XP_005262992.1:n.*38_*46delinsCTTTATTTT
XM_017008037.1:c.*38_*46delinsCTTTATTTT (CYP4V2) XP_016863526.1:n.*38_*46delinsCTTTATTTT
NM_207352.4:c.*38_*46delinsCTTTATTTT (CYP4V2) MANE Select NP_997235.3:n.*38_*46delinsCTTTATTTT