Canonical Allele Identifier: CA2764875334
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211318_186211332del , CM000666.2:g.186211318_186211332del GRCh38
NC_000004.11:g.187132472_187132486del , CM000666.1:g.187132472_187132486del GRCh37
NC_000004.10:g.187369466_187369480del NCBI36
NG_007965.1:g.24799_24813del
NG_012095.2:g.7340_7354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*677_*691del (CYP4V2) MANE Select ENSP00000368079.4:n.*677_*691del
ENST00000502665.1:n.1490_1504del (CYP4V2)
ENST00000507209.5:n.6953_6967del (CYP4V2)
ENST00000511608.5:c.201+2046_201+2060del (KLKB1)
NM_207352.3:c.*677_*691del (CYP4V2) NP_997235.3:n.*677_*691del
XM_005262935.2:c.*677_*691del (CYP4V2) XP_005262992.1:n.*677_*691del
XM_006714184.2:c.*677_*691del (CYP4V2) XP_006714247.1:n.*677_*691del
XM_011531931.1:c.-3391_-3377del (KLKB1) XP_011530233.1:n.-3391_-3377del
XM_011531932.1:c.-3641_-3627del (KLKB1) XP_011530234.1:n.-3641_-3627del
XM_011531933.1:c.-3455_-3441del (KLKB1) XP_011530235.1:n.-3455_-3441del
XM_005262935.4:c.*677_*691del (CYP4V2) XP_005262992.1:n.*677_*691del
XM_017008037.1:c.*677_*691del (CYP4V2) XP_016863526.1:n.*677_*691del
NM_207352.4:c.*677_*691del (CYP4V2) MANE Select NP_997235.3:n.*677_*691del