Canonical Allele Identifier: CA2672899225

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211480-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211484_186211485dup , CM000666.2:g.186211484_186211485dup	GRCh38
NC_000004.11:g.187132638_187132639dup , CM000666.1:g.187132638_187132639dup	GRCh37
NC_000004.10:g.187369632_187369633dup	NCBI36
NG_007965.1:g.24965_24966dup
NG_012095.2:g.7506_7507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*843_*844dup (CYP4V2) MANE Select	ENSP00000368079.4:n.*843_*844dup
ENST00000502665.1:n.1656_1657dup (CYP4V2)
ENST00000507209.5:n.7119_7120dup (CYP4V2)
ENST00000511608.5:c.201+2212_201+2213dup (KLKB1)
NM_207352.3:c.*843_*844dup (CYP4V2)	NP_997235.3:n.*843_*844dup
XM_005262935.2:c.*843_*844dup (CYP4V2)	XP_005262992.1:n.*843_*844dup
XM_006714184.2:c.*843_*844dup (CYP4V2)	XP_006714247.1:n.*843_*844dup
XM_011531931.1:c.-3225_-3224dup (KLKB1)	XP_011530233.1:n.-3225_-3224dup
XM_011531932.1:c.-3475_-3474dup (KLKB1)	XP_011530234.1:n.-3475_-3474dup
XM_011531933.1:c.-3289_-3288dup (KLKB1)	XP_011530235.1:n.-3289_-3288dup
XM_005262935.4:c.*843_*844dup (CYP4V2)	XP_005262992.1:n.*843_*844dup
XM_017008037.1:c.*843_*844dup (CYP4V2)	XP_016863526.1:n.*843_*844dup
NM_207352.4:c.*843_*844dup (CYP4V2) MANE Select	NP_997235.3:n.*843_*844dup