Canonical Allele Identifier: CA1071976673

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736769806
• gnomAD v3: 4-186212797-CAG-C
• gnomAD v4: 4-186212797-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212798_186212799del , CM000666.2:g.186212798_186212799del	GRCh38
NC_000004.11:g.187133952_187133953del , CM000666.1:g.187133952_187133953del	GRCh37
NC_000004.10:g.187370946_187370947del	NCBI36
NG_007965.1:g.26279_26280del
NG_012095.2:g.8820_8821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*2157_*2158del (CYP4V2) MANE Select	ENSP00000368079.4:n.*2157_*2158del
ENST00000502665.1:n.2970_2971del (CYP4V2)
ENST00000507209.5:n.8433_8434del (CYP4V2)
ENST00000511608.5:c.201+3526_201+3527del (KLKB1)
NM_207352.3:c.*2157_*2158del (CYP4V2)	NP_997235.3:n.*2157_*2158del
XM_005262935.2:c.*2157_*2158del (CYP4V2)	XP_005262992.1:n.*2157_*2158del
XM_006714184.2:c.*2157_*2158del (CYP4V2)	XP_006714247.1:n.*2157_*2158del
XM_011531931.1:c.-1911_-1910del (KLKB1)	XP_011530233.1:n.-1911_-1910del
XM_011531932.1:c.-2161_-2160del (KLKB1)	XP_011530234.1:n.-2161_-2160del
XM_011531933.1:c.-1975_-1974del (KLKB1)	XP_011530235.1:n.-1975_-1974del
XM_005262935.4:c.*2157_*2158del (CYP4V2)	XP_005262992.1:n.*2157_*2158del
XM_017008037.1:c.*2157_*2158del (CYP4V2)	XP_016863526.1:n.*2157_*2158del
NM_207352.4:c.*2157_*2158del (CYP4V2) MANE Select	NP_997235.3:n.*2157_*2158del