Canonical Allele Identifier: CA2672892800

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211694-C-CACACACACACACACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211697_186211698insCACACACACACAAACA , CM000666.2:g.186211697_186211698insCACACACACACAAACA	GRCh38
NC_000004.11:g.187132851_187132852insCACACACACACAAACA , CM000666.1:g.187132851_187132852insCACACACACACAAACA	GRCh37
NC_000004.10:g.187369845_187369846insCACACACACACAAACA	NCBI36
NG_007965.1:g.25178_25179insCACACACACACAAACA
NG_012095.2:g.7719_7720insCACACACACACAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1056_*1057insCACACACACACAAACA (CYP4V2) MANE Select	ENSP00000368079.4:n.*1056_*1057insCACACACACACAAACA
ENST00000502665.1:n.1869_1870insCACACACACACAAACA (CYP4V2)
ENST00000507209.5:n.7332_7333insCACACACACACAAACA (CYP4V2)
ENST00000511608.5:c.201+2425_201+2426insCACACACACACAAACA (KLKB1)
NM_207352.3:c.*1056_*1057insCACACACACACAAACA (CYP4V2)	NP_997235.3:n.*1056_*1057insCACACACACACAAACA
XM_005262935.2:c.*1056_*1057insCACACACACACAAACA (CYP4V2)	XP_005262992.1:n.*1056_*1057insCACACACACACAAACA
XM_006714184.2:c.*1056_*1057insCACACACACACAAACA (CYP4V2)	XP_006714247.1:n.*1056_*1057insCACACACACACAAACA
XM_011531931.1:c.-3012_-3011insCACACACACACAAACA (KLKB1)	XP_011530233.1:n.-3012_-3011insCACACACACACAAACA
XM_011531932.1:c.-3262_-3261insCACACACACACAAACA (KLKB1)	XP_011530234.1:n.-3262_-3261insCACACACACACAAACA
XM_011531933.1:c.-3076_-3075insCACACACACACAAACA (KLKB1)	XP_011530235.1:n.-3076_-3075insCACACACACACAAACA
XM_005262935.4:c.*1056_*1057insCACACACACACAAACA (CYP4V2)	XP_005262992.1:n.*1056_*1057insCACACACACACAAACA
XM_017008037.1:c.*1056_*1057insCACACACACACAAACA (CYP4V2)	XP_016863526.1:n.*1056_*1057insCACACACACACAAACA
NM_207352.4:c.*1056_*1057insCACACACACACAAACA (CYP4V2) MANE Select	NP_997235.3:n.*1056_*1057insCACACACACACAAACA