Canonical Allele Identifier: CA2764875331
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211316_186211317insAC , CM000666.2:g.186211316_186211317insAC GRCh38
NC_000004.11:g.187132470_187132471insAC , CM000666.1:g.187132470_187132471insAC GRCh37
NC_000004.10:g.187369464_187369465insAC NCBI36
NG_007965.1:g.24797_24798insAC
NG_012095.2:g.7338_7339insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*675_*676insAC (CYP4V2) MANE Select ENSP00000368079.4:n.*675_*676insAC
ENST00000502665.1:n.1488_1489insAC (CYP4V2)
ENST00000507209.5:n.6951_6952insAC (CYP4V2)
ENST00000511608.5:c.201+2044_201+2045insAC (KLKB1)
NM_207352.3:c.*675_*676insAC (CYP4V2) NP_997235.3:n.*675_*676insAC
XM_005262935.2:c.*675_*676insAC (CYP4V2) XP_005262992.1:n.*675_*676insAC
XM_006714184.2:c.*675_*676insAC (CYP4V2) XP_006714247.1:n.*675_*676insAC
XM_011531931.1:c.-3393_-3392insAC (KLKB1) XP_011530233.1:n.-3393_-3392insAC
XM_011531932.1:c.-3643_-3642insAC (KLKB1) XP_011530234.1:n.-3643_-3642insAC
XM_011531933.1:c.-3457_-3456insAC (KLKB1) XP_011530235.1:n.-3457_-3456insAC
XM_005262935.4:c.*675_*676insAC (CYP4V2) XP_005262992.1:n.*675_*676insAC
XM_017008037.1:c.*675_*676insAC (CYP4V2) XP_016863526.1:n.*675_*676insAC
NM_207352.4:c.*675_*676insAC (CYP4V2) MANE Select NP_997235.3:n.*675_*676insAC