Canonical Allele Identifier: CA2695204062

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210500del , CM000666.2:g.186210500del	GRCh38
NC_000004.11:g.187131654del , CM000666.1:g.187131654del	GRCh37
NC_000004.10:g.187368648del	NCBI36
NG_007965.1:g.23981del
NG_012095.2:g.6522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1437del (CYP4V2) MANE Select	ENSP00000368079.4:p.Ile480PhefsTer6
ENST00000378802.4:c.1437del (CYP4V2)	ENSP00000368079.4:p.Ile480PhefsTer6
ENST00000502665.1:n.672del (CYP4V2)
ENST00000507209.5:n.6135del (CYP4V2)
ENST00000511608.5:c.201+1228del (KLKB1)
ENST00000513354.5:n.527del (CYP4V2)
NM_207352.3:c.1437del (CYP4V2)	NP_997235.3:p.Ile480PhefsTer6
XM_005262935.2:c.1434del (CYP4V2)	XP_005262992.1:p.Ile479PhefsTer6
XM_006714184.2:c.1041del (CYP4V2)	XP_006714247.1:p.Ile348PhefsTer6
XM_005262935.4:c.1434del (CYP4V2)	XP_005262992.1:p.Ile479PhefsTer6
XM_017008037.1:c.1041del (CYP4V2)	XP_016863526.1:p.Ile348PhefsTer6
NM_207352.4:c.1437del (CYP4V2) MANE Select	NP_997235.3:p.Ile480PhefsTer6