Canonical Allele Identifier: CA557054815

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1561440162
• gnomAD v2: 4-187132844-C-CTT
• gnomAD v3: 4-186211690-C-CTT
• gnomAD v4: 4-186211690-C-CTT
• MyVariant Identifiers: chr4:g.187132845_187132852delinsTTACACACAT (hg19) ; chr4:g.186211691_186211698delinsTTACACACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211690_186211691insTT , CM000666.2:g.186211690_186211691insTT	GRCh38
NC_000004.11:g.187132844_187132845insTT , CM000666.1:g.187132844_187132845insTT	GRCh37
NC_000004.10:g.187369838_187369839insTT	NCBI36
NG_007965.1:g.25171_25172insTT
NG_012095.2:g.7712_7713insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1049_*1050insTT (CYP4V2) MANE Select	ENSP00000368079.4:n.*1049_*1050insTT
ENST00000502665.1:n.1862_1863insTT (CYP4V2)
ENST00000507209.5:n.7325_7326insTT (CYP4V2)
ENST00000511608.5:c.201+2418_201+2419insTT (KLKB1)
NM_207352.3:c.*1049_*1050insTT (CYP4V2)	NP_997235.3:n.*1049_*1050insTT
XM_005262935.2:c.*1049_*1050insTT (CYP4V2)	XP_005262992.1:n.*1049_*1050insTT
XM_006714184.2:c.*1049_*1050insTT (CYP4V2)	XP_006714247.1:n.*1049_*1050insTT
XM_011531931.1:c.-3019_-3018insTT (KLKB1)	XP_011530233.1:n.-3019_-3018insTT
XM_011531932.1:c.-3269_-3268insTT (KLKB1)	XP_011530234.1:n.-3269_-3268insTT
XM_011531933.1:c.-3083_-3082insTT (KLKB1)	XP_011530235.1:n.-3083_-3082insTT
XM_005262935.4:c.*1049_*1050insTT (CYP4V2)	XP_005262992.1:n.*1049_*1050insTT
XM_017008037.1:c.*1049_*1050insTT (CYP4V2)	XP_016863526.1:n.*1049_*1050insTT
NM_207352.4:c.*1049_*1050insTT (CYP4V2) MANE Select	NP_997235.3:n.*1049_*1050insTT