Canonical Allele Identifier: CA2764875377

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211345_186211346insAGA , CM000666.2:g.186211345_186211346insAGA	GRCh38
NC_000004.11:g.187132499_187132500insAGA , CM000666.1:g.187132499_187132500insAGA	GRCh37
NC_000004.10:g.187369493_187369494insAGA	NCBI36
NG_007965.1:g.24826_24827insAGA
NG_012095.2:g.7367_7368insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*704_*705insAGA (CYP4V2) MANE Select	ENSP00000368079.4:n.*704_*705insAGA
ENST00000502665.1:n.1517_1518insAGA (CYP4V2)
ENST00000507209.5:n.6980_6981insAGA (CYP4V2)
ENST00000511608.5:c.201+2073_201+2074insAGA (KLKB1)
NM_207352.3:c.*704_*705insAGA (CYP4V2)	NP_997235.3:n.*704_*705insAGA
XM_005262935.2:c.*704_*705insAGA (CYP4V2)	XP_005262992.1:n.*704_*705insAGA
XM_006714184.2:c.*704_*705insAGA (CYP4V2)	XP_006714247.1:n.*704_*705insAGA
XM_011531931.1:c.-3364_-3363insAGA (KLKB1)	XP_011530233.1:n.-3364_-3363insAGA
XM_011531932.1:c.-3614_-3613insAGA (KLKB1)	XP_011530234.1:n.-3614_-3613insAGA
XM_011531933.1:c.-3428_-3427insAGA (KLKB1)	XP_011530235.1:n.-3428_-3427insAGA
XM_005262935.4:c.*704_*705insAGA (CYP4V2)	XP_005262992.1:n.*704_*705insAGA
XM_017008037.1:c.*704_*705insAGA (CYP4V2)	XP_016863526.1:n.*704_*705insAGA
NM_207352.4:c.*704_*705insAGA (CYP4V2) MANE Select	NP_997235.3:n.*704_*705insAGA