Canonical Allele Identifier: CA557054814

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1561440168
• gnomAD v2: 4-187132844-CACACACAT-C
• gnomAD v3: 4-186211690-CACACACAT-C
• gnomAD v4: 4-186211690-CACACACAT-C
• MyVariant Identifiers: chr4:g.187132845_187132852del (hg19) ; chr4:g.186211691_186211698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211700_186211707del , CM000666.2:g.186211700_186211707del	GRCh38
NC_000004.11:g.187132854_187132861del , CM000666.1:g.187132854_187132861del	GRCh37
NC_000004.10:g.187369848_187369855del	NCBI36
NG_007965.1:g.25181_25188del
NG_012095.2:g.7722_7729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1059_*1066del (CYP4V2) MANE Select	ENSP00000368079.4:n.*1059_*1066del
ENST00000502665.1:n.1872_1879del (CYP4V2)
ENST00000507209.5:n.7335_7342del (CYP4V2)
ENST00000511608.5:c.201+2428_201+2435del (KLKB1)
NM_207352.3:c.*1059_*1066del (CYP4V2)	NP_997235.3:n.*1059_*1066del
XM_005262935.2:c.*1059_*1066del (CYP4V2)	XP_005262992.1:n.*1059_*1066del
XM_006714184.2:c.*1059_*1066del (CYP4V2)	XP_006714247.1:n.*1059_*1066del
XM_011531931.1:c.-3009_-3002del (KLKB1)	XP_011530233.1:n.-3009_-3002del
XM_011531932.1:c.-3259_-3252del (KLKB1)	XP_011530234.1:n.-3259_-3252del
XM_011531933.1:c.-3073_-3066del (KLKB1)	XP_011530235.1:n.-3073_-3066del
XM_005262935.4:c.*1059_*1066del (CYP4V2)	XP_005262992.1:n.*1059_*1066del
XM_017008037.1:c.*1059_*1066del (CYP4V2)	XP_016863526.1:n.*1059_*1066del
NM_207352.4:c.*1059_*1066del (CYP4V2) MANE Select	NP_997235.3:n.*1059_*1066del