Canonical Allele Identifier: CA1519892074

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210528_186210529delinsTG , CM000666.2:g.186210528_186210529delinsTG	GRCh38
NC_000004.11:g.187131682_187131683delinsTG , CM000666.1:g.187131682_187131683delinsTG	GRCh37
NC_000004.10:g.187368676_187368677delinsTG	NCBI36
NG_007965.1:g.24009_24010delinsTG
NG_012095.2:g.6550_6551delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1465_1466delinsTG (CYP4V2) MANE Select	ENSP00000368079.4:p.Trp489=
ENST00000378802.4:c.1465_1466delinsTG (CYP4V2)	ENSP00000368079.4:p.Trp489=
ENST00000502665.1:n.700_701delinsTG (CYP4V2)
ENST00000507209.5:n.6163_6164delinsTG (CYP4V2)
ENST00000511608.5:c.201+1256_201+1257delinsTG (KLKB1)
ENST00000513354.5:n.555_556delinsTG (CYP4V2)
NM_207352.3:c.1465_1466delinsTG (CYP4V2)	NP_997235.3:p.Trp489=
XM_005262935.2:c.1462_1463delinsTG (CYP4V2)	XP_005262992.1:p.Trp488=
XM_006714184.2:c.1069_1070delinsTG (CYP4V2)	XP_006714247.1:p.Trp357=
XM_005262935.4:c.1462_1463delinsTG (CYP4V2)	XP_005262992.1:p.Trp488=
XM_017008037.1:c.1069_1070delinsTG (CYP4V2)	XP_016863526.1:p.Trp357=
NM_207352.4:c.1465_1466delinsTG (CYP4V2) MANE Select	NP_997235.3:p.Trp489=