Canonical Allele Identifier: CA211711418
Gene: CYP2C8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037219_95037221dup , CM000672.2:g.95037219_95037221dup GRCh38
NC_000010.10:g.96796976_96796978dup , CM000672.1:g.96796976_96796978dup GRCh37
NC_000010.9:g.96786966_96786968dup NCBI36
NG_007972.1:g.37279_37281dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1382_1384dup MANE Select ENSP00000360317.3:p.Val461_Asp462insVal
ENST00000371270.5:c.1382_1384dup ENSP00000360317.3:p.Val461_Asp462insVal
ENST00000490994.6:c.*1168_*1170dup ENSP00000433314.1:n.*1168_*1170dup
ENST00000525991.5:c.*957_*959dup ENSP00000433842.1:n.*957_*959dup
ENST00000526814.5:n.1637_1639dup
ENST00000527420.5:c.*239_*241dup ENSP00000433191.1:n.*239_*241dup
ENST00000527953.5:n.1676_1678dup
ENST00000531714.1:n.570_572dup
ENST00000533320.5:n.1616_1618dup
ENST00000535898.5:c.1076_1078dup ENSP00000445062.1:p.Val359_Asp360insVal
ENST00000539050.5:c.1172_1174dup ENSP00000442343.2:p.Val391_Asp392insVal
ENST00000623108.3:c.1172_1174dup ENSP00000485110.1:p.Val391_Asp392insVal
NM_000770.3:c.1382_1384dup MANE Select NP_000761.3:p.Val461_Asp462insVal
NM_001198853.1:c.1172_1174dup NP_001185782.1:p.Val391_Asp392insVal
NM_001198854.1:c.1076_1078dup NP_001185783.1:p.Val359_Asp360insVal
NM_001198855.1:c.1172_1174dup NP_001185784.1:p.Val391_Asp392insVal
XR_945610.1:n.1517_1519dup