Canonical Allele Identifier: CA2672893232

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186212628-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212632del , CM000666.2:g.186212632del	GRCh38
NC_000004.11:g.187133786del , CM000666.1:g.187133786del	GRCh37
NC_000004.10:g.187370780del	NCBI36
NG_007965.1:g.26113del
NG_012095.2:g.8654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1991del (CYP4V2) MANE Select	ENSP00000368079.4:n.*1991del
ENST00000502665.1:n.2804del (CYP4V2)
ENST00000507209.5:n.8267del (CYP4V2)
ENST00000511608.5:c.201+3360del (KLKB1)
NM_207352.3:c.*1991del (CYP4V2)	NP_997235.3:n.*1991del
XM_005262935.2:c.*1991del (CYP4V2)	XP_005262992.1:n.*1991del
XM_006714184.2:c.*1991del (CYP4V2)	XP_006714247.1:n.*1991del
XM_011531931.1:c.-2077del (KLKB1)	XP_011530233.1:n.-2077del
XM_011531932.1:c.-2327del (KLKB1)	XP_011530234.1:n.-2327del
XM_011531933.1:c.-2141del (KLKB1)	XP_011530235.1:n.-2141del
XM_005262935.4:c.*1991del (CYP4V2)	XP_005262992.1:n.*1991del
XM_017008037.1:c.*1991del (CYP4V2)	XP_016863526.1:n.*1991del
NM_207352.4:c.*1991del (CYP4V2) MANE Select	NP_997235.3:n.*1991del