Canonical Allele Identifier: CA2764875342
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211325_186211338del , CM000666.2:g.186211325_186211338del GRCh38
NC_000004.11:g.187132479_187132492del , CM000666.1:g.187132479_187132492del GRCh37
NC_000004.10:g.187369473_187369486del NCBI36
NG_007965.1:g.24806_24819del
NG_012095.2:g.7347_7360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*684_*697del (CYP4V2) MANE Select ENSP00000368079.4:n.*684_*697del
ENST00000502665.1:n.1497_1510del (CYP4V2)
ENST00000507209.5:n.6960_6973del (CYP4V2)
ENST00000511608.5:c.201+2053_201+2066del (KLKB1)
NM_207352.3:c.*684_*697del (CYP4V2) NP_997235.3:n.*684_*697del
XM_005262935.2:c.*684_*697del (CYP4V2) XP_005262992.1:n.*684_*697del
XM_006714184.2:c.*684_*697del (CYP4V2) XP_006714247.1:n.*684_*697del
XM_011531931.1:c.-3384_-3371del (KLKB1) XP_011530233.1:n.-3384_-3371del
XM_011531932.1:c.-3634_-3621del (KLKB1) XP_011530234.1:n.-3634_-3621del
XM_011531933.1:c.-3448_-3435del (KLKB1) XP_011530235.1:n.-3448_-3435del
XM_005262935.4:c.*684_*697del (CYP4V2) XP_005262992.1:n.*684_*697del
XM_017008037.1:c.*684_*697del (CYP4V2) XP_016863526.1:n.*684_*697del
NM_207352.4:c.*684_*697del (CYP4V2) MANE Select NP_997235.3:n.*684_*697del