Canonical Allele Identifier: CA2764875633

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212483_186212484del , CM000666.2:g.186212483_186212484del	GRCh38
NC_000004.11:g.187133637_187133638del , CM000666.1:g.187133637_187133638del	GRCh37
NC_000004.10:g.187370631_187370632del	NCBI36
NG_007965.1:g.25964_25965del
NG_012095.2:g.8505_8506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1842_*1843del (CYP4V2) MANE Select	ENSP00000368079.4:n.*1842_*1843del
ENST00000502665.1:n.2655_2656del (CYP4V2)
ENST00000507209.5:n.8118_8119del (CYP4V2)
ENST00000511608.5:c.201+3211_201+3212del (KLKB1)
NM_207352.3:c.*1842_*1843del (CYP4V2)	NP_997235.3:n.*1842_*1843del
XM_005262935.2:c.*1842_*1843del (CYP4V2)	XP_005262992.1:n.*1842_*1843del
XM_006714184.2:c.*1842_*1843del (CYP4V2)	XP_006714247.1:n.*1842_*1843del
XM_011531931.1:c.-2226_-2225del (KLKB1)	XP_011530233.1:n.-2226_-2225del
XM_011531932.1:c.-2476_-2475del (KLKB1)	XP_011530234.1:n.-2476_-2475del
XM_011531933.1:c.-2290_-2289del (KLKB1)	XP_011530235.1:n.-2290_-2289del
XM_005262935.4:c.*1842_*1843del (CYP4V2)	XP_005262992.1:n.*1842_*1843del
XM_017008037.1:c.*1842_*1843del (CYP4V2)	XP_016863526.1:n.*1842_*1843del
NM_207352.4:c.*1842_*1843del (CYP4V2) MANE Select	NP_997235.3:n.*1842_*1843del