Canonical Allele Identifier: CA1519892956

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736729771

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211706_186211709del , CM000666.2:g.186211706_186211709del	GRCh38
NC_000004.11:g.187132860_187132863del , CM000666.1:g.187132860_187132863del	GRCh37
NC_000004.10:g.187369854_187369857del	NCBI36
NG_007965.1:g.25187_25190del
NG_012095.2:g.7728_7731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1065_*1068del (CYP4V2) MANE Select	ENSP00000368079.4:n.*1065_*1068del
ENST00000502665.1:n.1878_1881del (CYP4V2)
ENST00000507209.5:n.7341_7344del (CYP4V2)
ENST00000511608.5:c.201+2434_201+2437del (KLKB1)
NM_207352.3:c.*1065_*1068del (CYP4V2)	NP_997235.3:n.*1065_*1068del
XM_005262935.2:c.*1065_*1068del (CYP4V2)	XP_005262992.1:n.*1065_*1068del
XM_006714184.2:c.*1065_*1068del (CYP4V2)	XP_006714247.1:n.*1065_*1068del
XM_011531931.1:c.-3003_-3000del (KLKB1)	XP_011530233.1:n.-3003_-3000del
XM_011531932.1:c.-3253_-3250del (KLKB1)	XP_011530234.1:n.-3253_-3250del
XM_011531933.1:c.-3067_-3064del (KLKB1)	XP_011530235.1:n.-3067_-3064del
XM_005262935.4:c.*1065_*1068del (CYP4V2)	XP_005262992.1:n.*1065_*1068del
XM_017008037.1:c.*1065_*1068del (CYP4V2)	XP_016863526.1:n.*1065_*1068del
NM_207352.4:c.*1065_*1068del (CYP4V2) MANE Select	NP_997235.3:n.*1065_*1068del