Canonical Allele Identifier: CA2672899512

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211654-A-AATACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211664_186211671dup , CM000666.2:g.186211664_186211671dup	GRCh38
NC_000004.11:g.187132818_187132825dup , CM000666.1:g.187132818_187132825dup	GRCh37
NC_000004.10:g.187369812_187369819dup	NCBI36
NG_007965.1:g.25145_25152dup
NG_012095.2:g.7686_7693dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1023_*1030dup (CYP4V2) MANE Select	ENSP00000368079.4:n.*1023_*1030dup
ENST00000502665.1:n.1836_1843dup (CYP4V2)
ENST00000507209.5:n.7299_7306dup (CYP4V2)
ENST00000511608.5:c.201+2392_201+2399dup (KLKB1)
NM_207352.3:c.*1023_*1030dup (CYP4V2)	NP_997235.3:n.*1023_*1030dup
XM_005262935.2:c.*1023_*1030dup (CYP4V2)	XP_005262992.1:n.*1023_*1030dup
XM_006714184.2:c.*1023_*1030dup (CYP4V2)	XP_006714247.1:n.*1023_*1030dup
XM_011531931.1:c.-3045_-3038dup (KLKB1)	XP_011530233.1:n.-3045_-3038dup
XM_011531932.1:c.-3295_-3288dup (KLKB1)	XP_011530234.1:n.-3295_-3288dup
XM_011531933.1:c.-3109_-3102dup (KLKB1)	XP_011530235.1:n.-3109_-3102dup
XM_005262935.4:c.*1023_*1030dup (CYP4V2)	XP_005262992.1:n.*1023_*1030dup
XM_017008037.1:c.*1023_*1030dup (CYP4V2)	XP_016863526.1:n.*1023_*1030dup
NM_207352.4:c.*1023_*1030dup (CYP4V2) MANE Select	NP_997235.3:n.*1023_*1030dup