Canonical Allele Identifier: CA2764875400

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211361_186211364del , CM000666.2:g.186211361_186211364del	GRCh38
NC_000004.11:g.187132515_187132518del , CM000666.1:g.187132515_187132518del	GRCh37
NC_000004.10:g.187369509_187369512del	NCBI36
NG_007965.1:g.24842_24845del
NG_012095.2:g.7383_7386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*720_*723del (CYP4V2) MANE Select	ENSP00000368079.4:n.*720_*723del
ENST00000502665.1:n.1533_1536del (CYP4V2)
ENST00000507209.5:n.6996_6999del (CYP4V2)
ENST00000511608.5:c.201+2089_201+2092del (KLKB1)
NM_207352.3:c.*720_*723del (CYP4V2)	NP_997235.3:n.*720_*723del
XM_005262935.2:c.*720_*723del (CYP4V2)	XP_005262992.1:n.*720_*723del
XM_006714184.2:c.*720_*723del (CYP4V2)	XP_006714247.1:n.*720_*723del
XM_011531931.1:c.-3348_-3345del (KLKB1)	XP_011530233.1:n.-3348_-3345del
XM_011531932.1:c.-3598_-3595del (KLKB1)	XP_011530234.1:n.-3598_-3595del
XM_011531933.1:c.-3412_-3409del (KLKB1)	XP_011530235.1:n.-3412_-3409del
XM_005262935.4:c.*720_*723del (CYP4V2)	XP_005262992.1:n.*720_*723del
XM_017008037.1:c.*720_*723del (CYP4V2)	XP_016863526.1:n.*720_*723del
NM_207352.4:c.*720_*723del (CYP4V2) MANE Select	NP_997235.3:n.*720_*723del