Canonical Allele Identifier: CA2672892871

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211698-T-TAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211699_186211700insAACA , CM000666.2:g.186211699_186211700insAACA	GRCh38
NC_000004.11:g.187132853_187132854insAACA , CM000666.1:g.187132853_187132854insAACA	GRCh37
NC_000004.10:g.187369847_187369848insAACA	NCBI36
NG_007965.1:g.25180_25181insAACA
NG_012095.2:g.7721_7722insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1058_*1059insAACA (CYP4V2) MANE Select	ENSP00000368079.4:n.*1058_*1059insAACA
ENST00000502665.1:n.1871_1872insAACA (CYP4V2)
ENST00000507209.5:n.7334_7335insAACA (CYP4V2)
ENST00000511608.5:c.201+2427_201+2428insAACA (KLKB1)
NM_207352.3:c.*1058_*1059insAACA (CYP4V2)	NP_997235.3:n.*1058_*1059insAACA
XM_005262935.2:c.*1058_*1059insAACA (CYP4V2)	XP_005262992.1:n.*1058_*1059insAACA
XM_006714184.2:c.*1058_*1059insAACA (CYP4V2)	XP_006714247.1:n.*1058_*1059insAACA
XM_011531931.1:c.-3010_-3009insAACA (KLKB1)	XP_011530233.1:n.-3010_-3009insAACA
XM_011531932.1:c.-3260_-3259insAACA (KLKB1)	XP_011530234.1:n.-3260_-3259insAACA
XM_011531933.1:c.-3074_-3073insAACA (KLKB1)	XP_011530235.1:n.-3074_-3073insAACA
XM_005262935.4:c.*1058_*1059insAACA (CYP4V2)	XP_005262992.1:n.*1058_*1059insAACA
XM_017008037.1:c.*1058_*1059insAACA (CYP4V2)	XP_016863526.1:n.*1058_*1059insAACA
NM_207352.4:c.*1058_*1059insAACA (CYP4V2) MANE Select	NP_997235.3:n.*1058_*1059insAACA