Canonical Allele Identifier: CA1071975657

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1282528893
• gnomAD v3: 4-186211656-T-TACACACACACACACACAC
• gnomAD v4: 4-186211656-T-TACACACACACACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211663_186211664insCACACACACACACACACA , CM000666.2:g.186211663_186211664insCACACACACACACACACA	GRCh38
NC_000004.11:g.187132817_187132818insCACACACACACACACACA , CM000666.1:g.187132817_187132818insCACACACACACACACACA	GRCh37
NC_000004.10:g.187369811_187369812insCACACACACACACACACA	NCBI36
NG_007965.1:g.25144_25145insCACACACACACACACACA
NG_012095.2:g.7685_7686insCACACACACACACACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1022_*1023insCACACACACACACACACA (CYP4V2) MANE Select	ENSP00000368079.4:n.*1022_*1023insCACACACACACACACACA
ENST00000502665.1:n.1835_1836insCACACACACACACACACA (CYP4V2)
ENST00000507209.5:n.7298_7299insCACACACACACACACACA (CYP4V2)
ENST00000511608.5:c.201+2391_201+2392insCACACACACACACACACA (KLKB1)
NM_207352.3:c.*1022_*1023insCACACACACACACACACA (CYP4V2)	NP_997235.3:n.*1022_*1023insCACACACACACACACACA
XM_005262935.2:c.*1022_*1023insCACACACACACACACACA (CYP4V2)	XP_005262992.1:n.*1022_*1023insCACACACACACACACACA
XM_006714184.2:c.*1022_*1023insCACACACACACACACACA (CYP4V2)	XP_006714247.1:n.*1022_*1023insCACACACACACACACACA
XM_011531931.1:c.-3046_-3045insCACACACACACACACACA (KLKB1)	XP_011530233.1:n.-3046_-3045insCACACACACACACACACA
XM_011531932.1:c.-3296_-3295insCACACACACACACACACA (KLKB1)	XP_011530234.1:n.-3296_-3295insCACACACACACACACACA
XM_011531933.1:c.-3110_-3109insCACACACACACACACACA (KLKB1)	XP_011530235.1:n.-3110_-3109insCACACACACACACACACA
XM_005262935.4:c.*1022_*1023insCACACACACACACACACA (CYP4V2)	XP_005262992.1:n.*1022_*1023insCACACACACACACACACA
XM_017008037.1:c.*1022_*1023insCACACACACACACACACA (CYP4V2)	XP_016863526.1:n.*1022_*1023insCACACACACACACACACA
NM_207352.4:c.*1022_*1023insCACACACACACACACACA (CYP4V2) MANE Select	NP_997235.3:n.*1022_*1023insCACACACACACACACACA