Canonical Allele Identifier: CA2672898170

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210484-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210485del , CM000666.2:g.186210485del	GRCh38
NC_000004.11:g.187131639del , CM000666.1:g.187131639del	GRCh37
NC_000004.10:g.187368633del	NCBI36
NG_007965.1:g.23966del
NG_012095.2:g.6507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1422del (CYP4V2) MANE Select	ENSP00000368079.4:p.Met475TrpfsTer11
ENST00000378802.4:c.1422del (CYP4V2)	ENSP00000368079.4:p.Met475TrpfsTer11
ENST00000502665.1:n.657del (CYP4V2)
ENST00000507209.5:n.6120del (CYP4V2)
ENST00000511608.5:c.201+1213del (KLKB1)
ENST00000513354.5:n.512del (CYP4V2)
NM_207352.3:c.1422del (CYP4V2)	NP_997235.3:p.Met475TrpfsTer11
XM_005262935.2:c.1419del (CYP4V2)	XP_005262992.1:p.Met474TrpfsTer11
XM_006714184.2:c.1026del (CYP4V2)	XP_006714247.1:p.Met343TrpfsTer11
XM_005262935.4:c.1419del (CYP4V2)	XP_005262992.1:p.Met474TrpfsTer11
XM_017008037.1:c.1026del (CYP4V2)	XP_016863526.1:p.Met343TrpfsTer11
NM_207352.4:c.1422del (CYP4V2) MANE Select	NP_997235.3:p.Met475TrpfsTer11