Canonical Allele Identifier: CA792331104

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1465082926
• gnomAD v3: 4-186212794-AGACAGG-A
• gnomAD v4: 4-186212794-AGACAGG-A
• MyVariant Identifiers: chr4:g.187133949_187133954del (hg19) ; chr4:g.186212795_186212800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212796_186212801del , CM000666.2:g.186212796_186212801del	GRCh38
NC_000004.11:g.187133950_187133955del , CM000666.1:g.187133950_187133955del	GRCh37
NC_000004.10:g.187370944_187370949del	NCBI36
NG_007965.1:g.26277_26282del
NG_012095.2:g.8818_8823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*2155_*2160del (CYP4V2) MANE Select	ENSP00000368079.4:n.*2155_*2160del
ENST00000502665.1:n.2968_2973del (CYP4V2)
ENST00000507209.5:n.8431_8436del (CYP4V2)
ENST00000511608.5:c.201+3524_201+3529del (KLKB1)
NM_207352.3:c.*2155_*2160del (CYP4V2)	NP_997235.3:n.*2155_*2160del
XM_005262935.2:c.*2155_*2160del (CYP4V2)	XP_005262992.1:n.*2155_*2160del
XM_006714184.2:c.*2155_*2160del (CYP4V2)	XP_006714247.1:n.*2155_*2160del
XM_011531931.1:c.-1913_-1908del (KLKB1)	XP_011530233.1:n.-1913_-1908del
XM_011531932.1:c.-2163_-2158del (KLKB1)	XP_011530234.1:n.-2163_-2158del
XM_011531933.1:c.-1977_-1972del (KLKB1)	XP_011530235.1:n.-1977_-1972del
XM_005262935.4:c.*2155_*2160del (CYP4V2)	XP_005262992.1:n.*2155_*2160del
XM_017008037.1:c.*2155_*2160del (CYP4V2)	XP_016863526.1:n.*2155_*2160del
NM_207352.4:c.*2155_*2160del (CYP4V2) MANE Select	NP_997235.3:n.*2155_*2160del