Canonical Allele Identifier: CA2764875316
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211283_186211289del , CM000666.2:g.186211283_186211289del GRCh38
NC_000004.11:g.187132437_187132443del , CM000666.1:g.187132437_187132443del GRCh37
NC_000004.10:g.187369431_187369437del NCBI36
NG_007965.1:g.24764_24770del
NG_012095.2:g.7305_7311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*642_*648del (CYP4V2) MANE Select ENSP00000368079.4:n.*642_*648del
ENST00000502665.1:n.1455_1461del (CYP4V2)
ENST00000507209.5:n.6918_6924del (CYP4V2)
ENST00000511608.5:c.201+2011_201+2017del (KLKB1)
NM_207352.3:c.*642_*648del (CYP4V2) NP_997235.3:n.*642_*648del
XM_005262935.2:c.*642_*648del (CYP4V2) XP_005262992.1:n.*642_*648del
XM_006714184.2:c.*642_*648del (CYP4V2) XP_006714247.1:n.*642_*648del
XM_011531931.1:c.-3426_-3420del (KLKB1) XP_011530233.1:n.-3426_-3420del
XM_011531932.1:c.-3676_-3670del (KLKB1) XP_011530234.1:n.-3676_-3670del
XM_011531933.1:c.-3490_-3484del (KLKB1) XP_011530235.1:n.-3490_-3484del
XM_005262935.4:c.*642_*648del (CYP4V2) XP_005262992.1:n.*642_*648del
XM_017008037.1:c.*642_*648del (CYP4V2) XP_016863526.1:n.*642_*648del
NM_207352.4:c.*642_*648del (CYP4V2) MANE Select NP_997235.3:n.*642_*648del