Canonical Allele Identifier: CA917387434

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1579980398

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212703_186212704del , CM000666.2:g.186212703_186212704del	GRCh38
NC_000004.11:g.187133857_187133858del , CM000666.1:g.187133857_187133858del	GRCh37
NC_000004.10:g.187370851_187370852del	NCBI36
NG_007965.1:g.26184_26185del
NG_012095.2:g.8725_8726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*2062_*2063del (CYP4V2) MANE Select	ENSP00000368079.4:n.*2062_*2063del
ENST00000502665.1:n.2875_2876del (CYP4V2)
ENST00000507209.5:n.8338_8339del (CYP4V2)
ENST00000511608.5:c.201+3431_201+3432del (KLKB1)
NM_207352.3:c.*2062_*2063del (CYP4V2)	NP_997235.3:n.*2062_*2063del
XM_005262935.2:c.*2062_*2063del (CYP4V2)	XP_005262992.1:n.*2062_*2063del
XM_006714184.2:c.*2062_*2063del (CYP4V2)	XP_006714247.1:n.*2062_*2063del
XM_011531931.1:c.-2006_-2005del (KLKB1)	XP_011530233.1:n.-2006_-2005del
XM_011531932.1:c.-2256_-2255del (KLKB1)	XP_011530234.1:n.-2256_-2255del
XM_011531933.1:c.-2070_-2069del (KLKB1)	XP_011530235.1:n.-2070_-2069del
XM_005262935.4:c.*2062_*2063del (CYP4V2)	XP_005262992.1:n.*2062_*2063del
XM_017008037.1:c.*2062_*2063del (CYP4V2)	XP_016863526.1:n.*2062_*2063del
NM_207352.4:c.*2062_*2063del (CYP4V2) MANE Select	NP_997235.3:n.*2062_*2063del