Canonical Allele Identifier: CA1519893830

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212780_186212781delinsGC , CM000666.2:g.186212780_186212781delinsGC	GRCh38
NC_000004.11:g.187133934_187133935delinsGC , CM000666.1:g.187133934_187133935delinsGC	GRCh37
NC_000004.10:g.187370928_187370929delinsGC	NCBI36
NG_007965.1:g.26261_26262delinsGC
NG_012095.2:g.8802_8803delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*2139_*2140delinsGC (CYP4V2) MANE Select	ENSP00000368079.4:n.*2139_*2140delinsGC
ENST00000502665.1:n.2952_2953delinsGC (CYP4V2)
ENST00000507209.5:n.8415_8416delinsGC (CYP4V2)
ENST00000511608.5:c.201+3508_201+3509delinsGC (KLKB1)
NM_207352.3:c.*2139_*2140delinsGC (CYP4V2)	NP_997235.3:n.*2139_*2140delinsGC
XM_005262935.2:c.*2139_*2140delinsGC (CYP4V2)	XP_005262992.1:n.*2139_*2140delinsGC
XM_006714184.2:c.*2139_*2140delinsGC (CYP4V2)	XP_006714247.1:n.*2139_*2140delinsGC
XM_011531931.1:c.-1929_-1928delinsGC (KLKB1)	XP_011530233.1:n.-1929_-1928delinsGC
XM_011531932.1:c.-2179_-2178delinsGC (KLKB1)	XP_011530234.1:n.-2179_-2178delinsGC
XM_011531933.1:c.-1993_-1992delinsGC (KLKB1)	XP_011530235.1:n.-1993_-1992delinsGC
XM_005262935.4:c.*2139_*2140delinsGC (CYP4V2)	XP_005262992.1:n.*2139_*2140delinsGC
XM_017008037.1:c.*2139_*2140delinsGC (CYP4V2)	XP_016863526.1:n.*2139_*2140delinsGC
NM_207352.4:c.*2139_*2140delinsGC (CYP4V2) MANE Select	NP_997235.3:n.*2139_*2140delinsGC