Canonical Allele Identifier: CA1071975824

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs60425964
• gnomAD v3: 4-186211664-T-TACACACACACACACACACACAC
• gnomAD v4: 4-186211664-T-TACACACACACACACACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211676_186211697dup , CM000666.2:g.186211676_186211697dup	GRCh38
NC_000004.11:g.187132830_187132851dup , CM000666.1:g.187132830_187132851dup	GRCh37
NC_000004.10:g.187369824_187369845dup	NCBI36
NG_007965.1:g.25157_25178dup
NG_012095.2:g.7698_7719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1035_*1056dup (CYP4V2) MANE Select	ENSP00000368079.4:n.*1035_*1056dup
ENST00000502665.1:n.1848_1869dup (CYP4V2)
ENST00000507209.5:n.7311_7332dup (CYP4V2)
ENST00000511608.5:c.201+2404_201+2425dup (KLKB1)
NM_207352.3:c.*1035_*1056dup (CYP4V2)	NP_997235.3:n.*1035_*1056dup
XM_005262935.2:c.*1035_*1056dup (CYP4V2)	XP_005262992.1:n.*1035_*1056dup
XM_006714184.2:c.*1035_*1056dup (CYP4V2)	XP_006714247.1:n.*1035_*1056dup
XM_011531931.1:c.-3033_-3012dup (KLKB1)	XP_011530233.1:n.-3033_-3012dup
XM_011531932.1:c.-3283_-3262dup (KLKB1)	XP_011530234.1:n.-3283_-3262dup
XM_011531933.1:c.-3097_-3076dup (KLKB1)	XP_011530235.1:n.-3097_-3076dup
XM_005262935.4:c.*1035_*1056dup (CYP4V2)	XP_005262992.1:n.*1035_*1056dup
XM_017008037.1:c.*1035_*1056dup (CYP4V2)	XP_016863526.1:n.*1035_*1056dup
NM_207352.4:c.*1035_*1056dup (CYP4V2) MANE Select	NP_997235.3:n.*1035_*1056dup