Canonical Allele Identifier: CA2764875406

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211365_186211367del , CM000666.2:g.186211365_186211367del	GRCh38
NC_000004.11:g.187132519_187132521del , CM000666.1:g.187132519_187132521del	GRCh37
NC_000004.10:g.187369513_187369515del	NCBI36
NG_007965.1:g.24846_24848del
NG_012095.2:g.7387_7389del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*724_*726del (CYP4V2) MANE Select	ENSP00000368079.4:n.*724_*726del
ENST00000502665.1:n.1537_1539del (CYP4V2)
ENST00000507209.5:n.7000_7002del (CYP4V2)
ENST00000511608.5:c.201+2093_201+2095del (KLKB1)
NM_207352.3:c.*724_*726del (CYP4V2)	NP_997235.3:n.*724_*726del
XM_005262935.2:c.*724_*726del (CYP4V2)	XP_005262992.1:n.*724_*726del
XM_006714184.2:c.*724_*726del (CYP4V2)	XP_006714247.1:n.*724_*726del
XM_011531931.1:c.-3344_-3342del (KLKB1)	XP_011530233.1:n.-3344_-3342del
XM_011531932.1:c.-3594_-3592del (KLKB1)	XP_011530234.1:n.-3594_-3592del
XM_011531933.1:c.-3408_-3406del (KLKB1)	XP_011530235.1:n.-3408_-3406del
XM_005262935.4:c.*724_*726del (CYP4V2)	XP_005262992.1:n.*724_*726del
XM_017008037.1:c.*724_*726del (CYP4V2)	XP_016863526.1:n.*724_*726del
NM_207352.4:c.*724_*726del (CYP4V2) MANE Select	NP_997235.3:n.*724_*726del