Canonical Allele Identifier: CA2764875323

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211302_186211304del , CM000666.2:g.186211302_186211304del	GRCh38
NC_000004.11:g.187132456_187132458del , CM000666.1:g.187132456_187132458del	GRCh37
NC_000004.10:g.187369450_187369452del	NCBI36
NG_007965.1:g.24783_24785del
NG_012095.2:g.7324_7326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*661_*663del (CYP4V2) MANE Select	ENSP00000368079.4:n.*661_*663del
ENST00000502665.1:n.1474_1476del (CYP4V2)
ENST00000507209.5:n.6937_6939del (CYP4V2)
ENST00000511608.5:c.201+2030_201+2032del (KLKB1)
NM_207352.3:c.*661_*663del (CYP4V2)	NP_997235.3:n.*661_*663del
XM_005262935.2:c.*661_*663del (CYP4V2)	XP_005262992.1:n.*661_*663del
XM_006714184.2:c.*661_*663del (CYP4V2)	XP_006714247.1:n.*661_*663del
XM_011531931.1:c.-3407_-3405del (KLKB1)	XP_011530233.1:n.-3407_-3405del
XM_011531932.1:c.-3657_-3655del (KLKB1)	XP_011530234.1:n.-3657_-3655del
XM_011531933.1:c.-3471_-3469del (KLKB1)	XP_011530235.1:n.-3471_-3469del
XM_005262935.4:c.*661_*663del (CYP4V2)	XP_005262992.1:n.*661_*663del
XM_017008037.1:c.*661_*663del (CYP4V2)	XP_016863526.1:n.*661_*663del
NM_207352.4:c.*661_*663del (CYP4V2) MANE Select	NP_997235.3:n.*661_*663del