Canonical Allele Identifier: CA1929375427
Gene: CYP2C8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037266_95037267delinsTA , CM000672.2:g.95037266_95037267delinsTA GRCh38
NC_000010.10:g.96797023_96797024delinsTA , CM000672.1:g.96797023_96797024delinsTA GRCh37
NC_000010.9:g.96787013_96787014delinsTA NCBI36
NG_007972.1:g.37231_37232delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1334_1335delinsTA MANE Select ENSP00000360317.3:p.Leu445=
ENST00000371270.5:c.1334_1335delinsTA ENSP00000360317.3:p.Leu445=
ENST00000490994.6:c.*1120_*1121delinsTA ENSP00000433314.1:n.*1120_*1121delinsTA
ENST00000525991.5:c.*909_*910delinsTA ENSP00000433842.1:n.*909_*910delinsTA
ENST00000526814.5:n.1589_1590delinsTA
ENST00000527420.5:c.*191_*192delinsTA ENSP00000433191.1:n.*191_*192delinsTA
ENST00000527953.5:n.1628_1629delinsTA
ENST00000531714.1:n.522_523delinsTA
ENST00000533320.5:n.1568_1569delinsTA
ENST00000535898.5:c.1028_1029delinsTA ENSP00000445062.1:p.Leu343=
ENST00000539050.5:c.1124_1125delinsTA ENSP00000442343.2:p.Leu375=
ENST00000623108.3:c.1124_1125delinsTA ENSP00000485110.1:p.Leu375=
NM_000770.3:c.1334_1335delinsTA MANE Select NP_000761.3:p.Leu445=
NM_001198853.1:c.1124_1125delinsTA NP_001185782.1:p.Leu375=
NM_001198854.1:c.1028_1029delinsTA NP_001185783.1:p.Leu343=
NM_001198855.1:c.1124_1125delinsTA NP_001185784.1:p.Leu375=
XR_945610.1:n.1469_1470delinsTA