Canonical Allele Identifier: CA1071995538

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736623065
• gnomAD v3: 4-186209031-AGGGAAACTTTCTAATGTCTACCT-A
• gnomAD v4: 4-186209031-AGGGAAACTTTCTAATGTCTACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209032_186209054del , CM000666.2:g.186209032_186209054del	GRCh38
NC_000004.11:g.187130186_187130208del , CM000666.1:g.187130186_187130208del	GRCh37
NC_000004.10:g.187367180_187367202del	NCBI36
NG_007965.1:g.22513_22535del
NG_012095.2:g.5054_5076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1225+33_1226-39del (CYP4V2) MANE Select	ENSP00000368079.4:n.1225+33_1226-39del
ENST00000378802.4:c.1225+33_1226-39del (CYP4V2)	ENSP00000368079.4:n.1225+33_1226-39del
ENST00000502665.1:n.460+33_461-39del (CYP4V2)
ENST00000507209.5:n.5923+33_5924-39del (CYP4V2)
ENST00000511608.5:c.21+33_22-39del (KLKB1)
ENST00000513354.5:n.315+33_316-39del (CYP4V2)
NM_207352.3:c.1225+33_1226-39del (CYP4V2)	NP_997235.3:n.1225+33_1226-39del
XM_005262935.2:c.1225+33_1226-42del (CYP4V2)	XP_005262992.1:n.1225+33_1226-42del
XM_006714184.2:c.829+33_830-39del (CYP4V2)	XP_006714247.1:n.829+33_830-39del
XM_005262935.4:c.1225+33_1226-42del (CYP4V2)	XP_005262992.1:n.1225+33_1226-42del
XM_017008037.1:c.829+33_830-39del (CYP4V2)	XP_016863526.1:n.829+33_830-39del
NM_207352.4:c.1225+33_1226-39del (CYP4V2) MANE Select	NP_997235.3:n.1225+33_1226-39del