Canonical Allele Identifier: CA2672898163

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210443-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210444del , CM000666.2:g.186210444del	GRCh38
NC_000004.11:g.187131598del , CM000666.1:g.187131598del	GRCh37
NC_000004.10:g.187368592del	NCBI36
NG_007965.1:g.23925del
NG_012095.2:g.6466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1406-25del (CYP4V2) MANE Select	ENSP00000368079.4:n.1406-25del
ENST00000378802.4:c.1406-25del (CYP4V2)	ENSP00000368079.4:n.1406-25del
ENST00000502665.1:n.641-25del (CYP4V2)
ENST00000507209.5:n.6104-25del (CYP4V2)
ENST00000511608.5:c.201+1172del (KLKB1)
ENST00000513354.5:n.496-25del (CYP4V2)
NM_207352.3:c.1406-25del (CYP4V2)	NP_997235.3:n.1406-25del
XM_005262935.2:c.1403-25del (CYP4V2)	XP_005262992.1:n.1403-25del
XM_006714184.2:c.1010-25del (CYP4V2)	XP_006714247.1:n.1010-25del
XM_005262935.4:c.1403-25del (CYP4V2)	XP_005262992.1:n.1403-25del
XM_017008037.1:c.1010-25del (CYP4V2)	XP_016863526.1:n.1010-25del
NM_207352.4:c.1406-25del (CYP4V2) MANE Select	NP_997235.3:n.1406-25del