Canonical Allele Identifier: CA627144798

Gene: SMG8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59211585del , CM000679.2:g.59211585del	GRCh38
NC_000017.10:g.57288946del , CM000679.1:g.57288946del	GRCh37
NC_000017.9:g.54643728del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018149.7:c.1534del MANE Select	NP_060619.4:p.Gln512SerfsTer10
ENST00000300917.10:c.1534del MANE Select	ENSP00000300917.4:p.Gln512SerfsTer10
NM_018149.6:c.1534del	NP_060619.4:p.Gln512SerfsTer10
ENST00000300917.9:c.1534del	ENSP00000300917.4:p.Gln512SerfsTer10
ENST00000543872.6:c.1534del	ENSP00000438748.2:p.Gln512SerfsTer10
ENST00000577660.1:c.136-3220del	ENSP00000464167.1:n.136-3220del
ENST00000578922.1:c.1534del	ENSP00000462119.1:p.Gln512SerfsTer10
ENST00000580498.5:n.241-756del
ENST00000582469.1:c.163del	ENSP00000462931.1:p.Gln55SerfsTer10