Canonical Allele Identifier: CA5767622

Gene: CYP2E1

Linked Data

• dbSNP Id: rs769163444
• ExAC: 10:135345673 ACGTCATAG / A
• gnomAD v2: 10-135345673-ACGTCATAG-A
• gnomAD v4: 10-133532169-ACGTCATAG-A
• MyVariant Identifiers: chr10:g.135345674_135345681del (hg19) ; chr10:g.133532170_133532177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532171_133532178del , CM000672.2:g.133532171_133532178del	GRCh38
NC_000010.10:g.135345675_135345682del , CM000672.1:g.135345675_135345682del	GRCh37
NC_000010.9:g.135195665_135195672del	NCBI36
NG_008383.1:g.9809_9816del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.535_542del MANE Select	ENSP00000252945.3:p.Val179ArgfsTer9
ENST00000252945.7:c.535_542del	ENSP00000252945.3:p.Val179ArgfsTer9
ENST00000368520.1:n.596_603del
ENST00000418356.1:c.124_131del	ENSP00000397299.1:p.Val42ArgfsTer9
ENST00000421586.5:c.274_281del	ENSP00000412754.1:p.Val92ArgfsTer9
ENST00000463117.6:c.535_542del	ENSP00000440689.1:p.Val179ArgfsTer9
ENST00000477500.5:n.448+437_448+444del
ENST00000541080.5:c.226+437_226+444del
NM_000773.3:c.535_542del	NP_000764.1:p.Val179ArgfsTer9
NM_000773.4:c.535_542del MANE Select	NP_000764.1:p.Val179ArgfsTer9