Canonical Allele Identifier: CA2672899165

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211458-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211458_186211459insAT , CM000666.2:g.186211458_186211459insAT	GRCh38
NC_000004.11:g.187132612_187132613insAT , CM000666.1:g.187132612_187132613insAT	GRCh37
NC_000004.10:g.187369606_187369607insAT	NCBI36
NG_007965.1:g.24939_24940insAT
NG_012095.2:g.7480_7481insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*817_*818insAT (CYP4V2) MANE Select	ENSP00000368079.4:n.*817_*818insAT
ENST00000502665.1:n.1630_1631insAT (CYP4V2)
ENST00000507209.5:n.7093_7094insAT (CYP4V2)
ENST00000511608.5:c.201+2186_201+2187insAT (KLKB1)
NM_207352.3:c.*817_*818insAT (CYP4V2)	NP_997235.3:n.*817_*818insAT
XM_005262935.2:c.*817_*818insAT (CYP4V2)	XP_005262992.1:n.*817_*818insAT
XM_006714184.2:c.*817_*818insAT (CYP4V2)	XP_006714247.1:n.*817_*818insAT
XM_011531931.1:c.-3251_-3250insAT (KLKB1)	XP_011530233.1:n.-3251_-3250insAT
XM_011531932.1:c.-3501_-3500insAT (KLKB1)	XP_011530234.1:n.-3501_-3500insAT
XM_011531933.1:c.-3315_-3314insAT (KLKB1)	XP_011530235.1:n.-3315_-3314insAT
XM_005262935.4:c.*817_*818insAT (CYP4V2)	XP_005262992.1:n.*817_*818insAT
XM_017008037.1:c.*817_*818insAT (CYP4V2)	XP_016863526.1:n.*817_*818insAT
NM_207352.4:c.*817_*818insAT (CYP4V2) MANE Select	NP_997235.3:n.*817_*818insAT