Canonical Allele Identifier: CA2672899170

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211459-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211460_186211461del , CM000666.2:g.186211460_186211461del	GRCh38
NC_000004.11:g.187132614_187132615del , CM000666.1:g.187132614_187132615del	GRCh37
NC_000004.10:g.187369608_187369609del	NCBI36
NG_007965.1:g.24941_24942del
NG_012095.2:g.7482_7483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*819_*820del (CYP4V2) MANE Select	ENSP00000368079.4:n.*819_*820del
ENST00000502665.1:n.1632_1633del (CYP4V2)
ENST00000507209.5:n.7095_7096del (CYP4V2)
ENST00000511608.5:c.201+2188_201+2189del (KLKB1)
NM_207352.3:c.*819_*820del (CYP4V2)	NP_997235.3:n.*819_*820del
XM_005262935.2:c.*819_*820del (CYP4V2)	XP_005262992.1:n.*819_*820del
XM_006714184.2:c.*819_*820del (CYP4V2)	XP_006714247.1:n.*819_*820del
XM_011531931.1:c.-3249_-3248del (KLKB1)	XP_011530233.1:n.-3249_-3248del
XM_011531932.1:c.-3499_-3498del (KLKB1)	XP_011530234.1:n.-3499_-3498del
XM_011531933.1:c.-3313_-3312del (KLKB1)	XP_011530235.1:n.-3313_-3312del
XM_005262935.4:c.*819_*820del (CYP4V2)	XP_005262992.1:n.*819_*820del
XM_017008037.1:c.*819_*820del (CYP4V2)	XP_016863526.1:n.*819_*820del
NM_207352.4:c.*819_*820del (CYP4V2) MANE Select	NP_997235.3:n.*819_*820del