Canonical Allele Identifier: CA10620695

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 348334
• ClinVar RCV Id: RCV000275244 ; RCV000385954
• dbSNP Id: rs1554075269
• MyVariant Identifiers: chr4:g.187132851_187132852insCACACATACA (hg19) ; chr4:g.187132848_187132849insACACACACAT (hg19) ; chr4:g.186211697_186211698insCACACATACA (hg38) ; chr4:g.186211694_186211695insACACACACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211697_186211698insCACACATACA , CM000666.2:g.186211697_186211698insCACACATACA	GRCh38
NC_000004.11:g.187132851_187132852insCACACATACA , CM000666.1:g.187132851_187132852insCACACATACA	GRCh37
NC_000004.10:g.187369845_187369846insCACACATACA	NCBI36
NG_007965.1:g.25178_25179insCACACATACA
NG_012095.2:g.7719_7720insCACACATACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*1056_*1057insCACACATACA (CYP4V2) MANE Select	ENSP00000368079.4:n.*1056_*1057insCACACAT...
ENST00000502665.1:n.1869_1870insCACACATACA (CYP4V2)
ENST00000507209.5:n.7332_7333insCACACATACA (CYP4V2)
ENST00000511608.5:c.201+2425_201+2426insCACACATACA (KLKB1)
NM_207352.3:c.*1056_*1057insCACACATACA (CYP4V2)	NP_997235.3:n.*1056_*1057insCACACATACA
XM_005262935.2:c.*1056_*1057insCACACATACA (CYP4V2)	XP_005262992.1:n.*1056_*1057insCACACATACA...
XM_006714184.2:c.*1056_*1057insCACACATACA (CYP4V2)	XP_006714247.1:n.*1056_*1057insCACACATACA...
XM_011531931.1:c.-3012_-3011insCACACATACA (KLKB1)	XP_011530233.1:n.-3012_-3011insCACACATACA...
XM_011531932.1:c.-3262_-3261insCACACATACA (KLKB1)	XP_011530234.1:n.-3262_-3261insCACACATACA...
XM_011531933.1:c.-3076_-3075insCACACATACA (KLKB1)	XP_011530235.1:n.-3076_-3075insCACACATACA...
XM_005262935.4:c.*1056_*1057insCACACATACA (CYP4V2)	XP_005262992.1:n.*1056_*1057insCACACATACA...
XM_017008037.1:c.*1056_*1057insCACACATACA (CYP4V2)	XP_016863526.1:n.*1056_*1057insCACACATACA...
NM_207352.4:c.*1056_*1057insCACACATACA (CYP4V2) MANE Select	NP_997235.3:n.*1056_*1057insCACACATACA