Canonical Allele Identifier: CA1519892466

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211316_186211320delinsTTTTG , CM000666.2:g.186211316_186211320delinsTTTTG	GRCh38
NC_000004.11:g.187132470_187132474delinsTTTTG , CM000666.1:g.187132470_187132474delinsTTTTG	GRCh37
NC_000004.10:g.187369464_187369468delinsTTTTG	NCBI36
NG_007965.1:g.24797_24801delinsTTTTG
NG_012095.2:g.7338_7342delinsTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*675_*679delinsTTTTG (CYP4V2) MANE Select	ENSP00000368079.4:n.*675_*679delinsTTTTG
ENST00000502665.1:n.1488_1492delinsTTTTG (CYP4V2)
ENST00000507209.5:n.6951_6955delinsTTTTG (CYP4V2)
ENST00000511608.5:c.201+2044_201+2048delinsTTTTG (KLKB1)
NM_207352.3:c.*675_*679delinsTTTTG (CYP4V2)	NP_997235.3:n.*675_*679delinsTTTTG
XM_005262935.2:c.*675_*679delinsTTTTG (CYP4V2)	XP_005262992.1:n.*675_*679delinsTTTTG
XM_006714184.2:c.*675_*679delinsTTTTG (CYP4V2)	XP_006714247.1:n.*675_*679delinsTTTTG
XM_011531931.1:c.-3393_-3389delinsTTTTG (KLKB1)	XP_011530233.1:n.-3393_-3389delinsTTTTG
XM_011531932.1:c.-3643_-3639delinsTTTTG (KLKB1)	XP_011530234.1:n.-3643_-3639delinsTTTTG
XM_011531933.1:c.-3457_-3453delinsTTTTG (KLKB1)	XP_011530235.1:n.-3457_-3453delinsTTTTG
XM_005262935.4:c.*675_*679delinsTTTTG (CYP4V2)	XP_005262992.1:n.*675_*679delinsTTTTG
XM_017008037.1:c.*675_*679delinsTTTTG (CYP4V2)	XP_016863526.1:n.*675_*679delinsTTTTG
NM_207352.4:c.*675_*679delinsTTTTG (CYP4V2) MANE Select	NP_997235.3:n.*675_*679delinsTTTTG