Canonical Allele Identifier: CA5617784
Community Standard Title: NM_000770.3(CYP2C8):c.475del (p.Thr159ProfsTer19)
Gene: CYP2C8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95067218del , CM000672.2:g.95067218del GRCh38
NC_000010.10:g.96826975del , CM000672.1:g.96826975del GRCh37
NC_000010.9:g.96816965del NCBI36
NG_007972.1:g.7284del

Transcript Alleles

HGVS Amino-acid Change
NM_000770.3:c.475del MANE Select NP_000761.3:p.Thr159ProfsTer19
ENST00000371270.6:c.475del MANE Select ENSP00000360317.3:p.Thr159ProfsTer19
NM_001198853.1:c.265del NP_001185782.1:p.Thr89ProfsTer19
NM_001198854.1:c.169del NP_001185783.1:p.Thr57ProfsTer19
NM_001198855.1:c.265del NP_001185784.1:p.Thr89ProfsTer19
ENST00000371270.5:c.475del ENSP00000360317.3:p.Thr159ProfsTer19
ENST00000479946.2:n.779del
ENST00000490994.6:c.*261del ENSP00000433314.1:n.*261del
ENST00000525991.5:c.*50del ENSP00000433842.1:n.*50del
ENST00000526814.5:n.730del
ENST00000527420.5:c.475del ENSP00000433191.1:p.Thr159ProfsTer19
ENST00000527953.5:n.730del
ENST00000533320.5:n.709del
ENST00000535898.5:c.169del ENSP00000445062.1:p.Thr57ProfsTer19
ENST00000539050.5:c.265del ENSP00000442343.2:p.Thr89ProfsTer19
ENST00000623108.3:c.265del ENSP00000485110.1:p.Thr89ProfsTer19
ENST00000628935.1:c.217del ENSP00000487145.1:p.Thr73ProfsTer19
XR_945610.1:n.571del