Canonical Allele Identifier: CA2764875339
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211322_186211323insAC , CM000666.2:g.186211322_186211323insAC GRCh38
NC_000004.11:g.187132476_187132477insAC , CM000666.1:g.187132476_187132477insAC GRCh37
NC_000004.10:g.187369470_187369471insAC NCBI36
NG_007965.1:g.24803_24804insAC
NG_012095.2:g.7344_7345insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*681_*682insAC (CYP4V2) MANE Select ENSP00000368079.4:n.*681_*682insAC
ENST00000502665.1:n.1494_1495insAC (CYP4V2)
ENST00000507209.5:n.6957_6958insAC (CYP4V2)
ENST00000511608.5:c.201+2050_201+2051insAC (KLKB1)
NM_207352.3:c.*681_*682insAC (CYP4V2) NP_997235.3:n.*681_*682insAC
XM_005262935.2:c.*681_*682insAC (CYP4V2) XP_005262992.1:n.*681_*682insAC
XM_006714184.2:c.*681_*682insAC (CYP4V2) XP_006714247.1:n.*681_*682insAC
XM_011531931.1:c.-3387_-3386insAC (KLKB1) XP_011530233.1:n.-3387_-3386insAC
XM_011531932.1:c.-3637_-3636insAC (KLKB1) XP_011530234.1:n.-3637_-3636insAC
XM_011531933.1:c.-3451_-3450insAC (KLKB1) XP_011530235.1:n.-3451_-3450insAC
XM_005262935.4:c.*681_*682insAC (CYP4V2) XP_005262992.1:n.*681_*682insAC
XM_017008037.1:c.*681_*682insAC (CYP4V2) XP_016863526.1:n.*681_*682insAC
NM_207352.4:c.*681_*682insAC (CYP4V2) MANE Select NP_997235.3:n.*681_*682insAC