Canonical Allele Identifier: CA2764875350
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211329_186211330insACC , CM000666.2:g.186211329_186211330insACC GRCh38
NC_000004.11:g.187132483_187132484insACC , CM000666.1:g.187132483_187132484insACC GRCh37
NC_000004.10:g.187369477_187369478insACC NCBI36
NG_007965.1:g.24810_24811insACC
NG_012095.2:g.7351_7352insACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*688_*689insACC (CYP4V2) MANE Select ENSP00000368079.4:n.*688_*689insACC
ENST00000502665.1:n.1501_1502insACC (CYP4V2)
ENST00000507209.5:n.6964_6965insACC (CYP4V2)
ENST00000511608.5:c.201+2057_201+2058insACC (KLKB1)
NM_207352.3:c.*688_*689insACC (CYP4V2) NP_997235.3:n.*688_*689insACC
XM_005262935.2:c.*688_*689insACC (CYP4V2) XP_005262992.1:n.*688_*689insACC
XM_006714184.2:c.*688_*689insACC (CYP4V2) XP_006714247.1:n.*688_*689insACC
XM_011531931.1:c.-3380_-3379insACC (KLKB1) XP_011530233.1:n.-3380_-3379insACC
XM_011531932.1:c.-3630_-3629insACC (KLKB1) XP_011530234.1:n.-3630_-3629insACC
XM_011531933.1:c.-3444_-3443insACC (KLKB1) XP_011530235.1:n.-3444_-3443insACC
XM_005262935.4:c.*688_*689insACC (CYP4V2) XP_005262992.1:n.*688_*689insACC
XM_017008037.1:c.*688_*689insACC (CYP4V2) XP_016863526.1:n.*688_*689insACC
NM_207352.4:c.*688_*689insACC (CYP4V2) MANE Select NP_997235.3:n.*688_*689insACC