Canonical Allele Identifier: CA1847112716

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784870_37784878delinsCTCTAGCAT , CM000671.2:g.37784870_37784878delinsCTCTAGCAT	GRCh38
NC_000009.11:g.37784867_37784875delinsCTCTAGCAT , CM000671.1:g.37784867_37784875delinsCTCTAGCAT	GRCh37
NC_000009.10:g.37774867_37774875delinsCTCTAGCAT	NCBI36
NG_032780.1:g.5215_5223delinsATGCTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.167_175delinsATGCTAGAG MANE Select	ENSP00000323046.4:p.Asn56=
ENST00000678095.1:c.-70-815_-70-807delinsATGCTAGAG	ENSP00000503205.1:n.-70-815_-70-807delinsATGCTAGAG
ENST00000678588.1:n.187_195delinsATGCTAGAG
ENST00000679059.1:c.167_175delinsATGCTAGAG	ENSP00000503947.1:p.Asn56=
ENST00000327304.9:c.167_175delinsATGCTAGAG	ENSP00000323046.4:p.Asn56=
ENST00000396521.3:c.167_175delinsATGCTAGAG	ENSP00000379775.3:p.Asn56=
ENST00000465229.5:c.167_175delinsATGCTAGAG	ENSP00000418422.1:p.Asn56=
ENST00000482614.5:n.86-815_86-807delinsATGCTAGAG
ENST00000489414.5:n.44-815_44-807delinsATGCTAGAG
ENST00000540557.1:c.*761-815_*761-807delinsATGCTAGAG	ENSP00000457548.1:n.*761-815_*761-807delinsATGCTAGAG
NM_001002269.2:c.167_175delinsATGCTAGAG	NP_001002269.1:p.Asn56=
NM_016042.3:c.167_175delinsATGCTAGAG	NP_057126.2:p.Asn56=
NM_016042.4:c.167_175delinsATGCTAGAG MANE Select	NP_057126.2:p.Asn56=