Canonical Allele Identifier: CA2533988543

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211705_186211706insCACATACACACACACA , CM000666.2:g.186211705_186211706insCACATACACACACACA	GRCh38
NC_000004.11:g.187132859_187132860insCACATACACACACACA , CM000666.1:g.187132859_187132860insCACATACACACACACA	GRCh37
NC_000004.10:g.187369853_187369854insCACATACACACACACA	NCBI36
NG_007965.1:g.25186_25187insCACATACACACACACA
NG_012095.2:g.7727_7728insCACATACACACACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1064_*1065insCACATACACACACACA (CYP4V2) MANE Select	ENSP00000368079.4:n.*1064_*1065insCACATACACACACACA
ENST00000502665.1:n.1877_1878insCACATACACACACACA (CYP4V2)
ENST00000507209.5:n.7340_7341insCACATACACACACACA (CYP4V2)
ENST00000511608.5:c.201+2433_201+2434insCACATACACACACACA (KLKB1)
NM_207352.3:c.*1064_*1065insCACATACACACACACA (CYP4V2)	NP_997235.3:n.*1064_*1065insCACATACACACACACA
XM_005262935.2:c.*1064_*1065insCACATACACACACACA (CYP4V2)	XP_005262992.1:n.*1064_*1065insCACATACACACACACA
XM_006714184.2:c.*1064_*1065insCACATACACACACACA (CYP4V2)	XP_006714247.1:n.*1064_*1065insCACATACACACACACA
XM_011531931.1:c.-3004_-3003insCACATACACACACACA (KLKB1)	XP_011530233.1:n.-3004_-3003insCACATACACACACACA
XM_011531932.1:c.-3254_-3253insCACATACACACACACA (KLKB1)	XP_011530234.1:n.-3254_-3253insCACATACACACACACA
XM_011531933.1:c.-3068_-3067insCACATACACACACACA (KLKB1)	XP_011530235.1:n.-3068_-3067insCACATACACACACACA
XM_005262935.4:c.*1064_*1065insCACATACACACACACA (CYP4V2)	XP_005262992.1:n.*1064_*1065insCACATACACACACACA
XM_017008037.1:c.*1064_*1065insCACATACACACACACA (CYP4V2)	XP_016863526.1:n.*1064_*1065insCACATACACACACACA
NM_207352.4:c.*1064_*1065insCACATACACACACACA (CYP4V2) MANE Select	NP_997235.3:n.*1064_*1065insCACATACACACACACA