Canonical Allele Identifier: CA1519893845
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212794_186212800delinsAGACAGG , CM000666.2:g.186212794_186212800delinsAGACAGG GRCh38
NC_000004.11:g.187133948_187133954delinsAGACAGG , CM000666.1:g.187133948_187133954delinsAGACAGG GRCh37
NC_000004.10:g.187370942_187370948delinsAGACAGG NCBI36
NG_007965.1:g.26275_26281delinsAGACAGG
NG_012095.2:g.8816_8822delinsAGACAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2153_*2159delinsAGACAGG (CYP4V2) MANE Select ENSP00000368079.4:n.*2153_*2159delinsAGACAGG
ENST00000502665.1:n.2966_2972delinsAGACAGG (CYP4V2)
ENST00000507209.5:n.8429_8435delinsAGACAGG (CYP4V2)
ENST00000511608.5:c.201+3522_201+3528delinsAGACAGG (KLKB1)
NM_207352.3:c.*2153_*2159delinsAGACAGG (CYP4V2) NP_997235.3:n.*2153_*2159delinsAGACAGG
XM_005262935.2:c.*2153_*2159delinsAGACAGG (CYP4V2) XP_005262992.1:n.*2153_*2159delinsAGACAGG
XM_006714184.2:c.*2153_*2159delinsAGACAGG (CYP4V2) XP_006714247.1:n.*2153_*2159delinsAGACAGG
XM_011531931.1:c.-1915_-1909delinsAGACAGG (KLKB1) XP_011530233.1:n.-1915_-1909delinsAGACAGG
XM_011531932.1:c.-2165_-2159delinsAGACAGG (KLKB1) XP_011530234.1:n.-2165_-2159delinsAGACAGG
XM_011531933.1:c.-1979_-1973delinsAGACAGG (KLKB1) XP_011530235.1:n.-1979_-1973delinsAGACAGG
XM_005262935.4:c.*2153_*2159delinsAGACAGG (CYP4V2) XP_005262992.1:n.*2153_*2159delinsAGACAGG
XM_017008037.1:c.*2153_*2159delinsAGACAGG (CYP4V2) XP_016863526.1:n.*2153_*2159delinsAGACAGG
NM_207352.4:c.*2153_*2159delinsAGACAGG (CYP4V2) MANE Select NP_997235.3:n.*2153_*2159delinsAGACAGG