Canonical Allele Identifier: CA1519892421

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736708518
• gnomAD v4: 4-186211210-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211211del , CM000666.2:g.186211211del	GRCh38
NC_000004.11:g.187132365del , CM000666.1:g.187132365del	GRCh37
NC_000004.10:g.187369359del	NCBI36
NG_007965.1:g.24692del
NG_012095.2:g.7233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*570del (CYP4V2) MANE Select	ENSP00000368079.4:n.*570del
ENST00000502665.1:n.1383del (CYP4V2)
ENST00000507209.5:n.6846del (CYP4V2)
ENST00000511608.5:c.201+1939del (KLKB1)
NM_207352.3:c.*570del (CYP4V2)	NP_997235.3:n.*570del
XM_005262935.2:c.*570del (CYP4V2)	XP_005262992.1:n.*570del
XM_006714184.2:c.*570del (CYP4V2)	XP_006714247.1:n.*570del
XM_011531931.1:c.-3498del (KLKB1)	XP_011530233.1:n.-3498del
XM_011531932.1:c.-3748del (KLKB1)	XP_011530234.1:n.-3748del
XM_011531933.1:c.-3562del (KLKB1)	XP_011530235.1:n.-3562del
XM_005262935.4:c.*570del (CYP4V2)	XP_005262992.1:n.*570del
XM_017008037.1:c.*570del (CYP4V2)	XP_016863526.1:n.*570del
NM_207352.4:c.*570del (CYP4V2) MANE Select	NP_997235.3:n.*570del