Canonical Allele Identifier: CA1071974017

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v3: 4-186209380-TAA-T
• gnomAD v4: 4-186209380-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209389_186209390del , CM000666.2:g.186209389_186209390del	GRCh38
NC_000004.11:g.187130543_187130544del , CM000666.1:g.187130543_187130544del	GRCh37
NC_000004.10:g.187367537_187367538del	NCBI36
NG_007965.1:g.22870_22871del
NG_012095.2:g.5411_5412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1405+117_1405+118del (CYP4V2) MANE Select	ENSP00000368079.4:n.1405+117_1405+118del
ENST00000378802.4:c.1405+117_1405+118del (CYP4V2)	ENSP00000368079.4:n.1405+117_1405+118del
ENST00000502665.1:n.640+117_640+118del (CYP4V2)
ENST00000507209.5:n.6103+117_6103+118del (CYP4V2)
ENST00000511608.5:c.201+117_201+118del (KLKB1)
ENST00000513354.5:n.495+117_495+118del (CYP4V2)
NM_207352.3:c.1405+117_1405+118del (CYP4V2)	NP_997235.3:n.1405+117_1405+118del
XM_005262935.2:c.1402+117_1402+118del (CYP4V2)	XP_005262992.1:n.1402+117_1402+118del
XM_006714184.2:c.1009+117_1009+118del (CYP4V2)	XP_006714247.1:n.1009+117_1009+118del
XM_005262935.4:c.1402+117_1402+118del (CYP4V2)	XP_005262992.1:n.1402+117_1402+118del
XM_017008037.1:c.1009+117_1009+118del (CYP4V2)	XP_016863526.1:n.1009+117_1009+118del
NM_207352.4:c.1405+117_1405+118del (CYP4V2) MANE Select	NP_997235.3:n.1405+117_1405+118del