Canonical Allele Identifier: CA2580614163

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33016810_33016811del , CM000665.2:g.33016810_33016811del	GRCh38
NC_000003.11:g.33058302_33058303del , CM000665.1:g.33058302_33058303del	GRCh37
NC_000003.10:g.33033306_33033307del	NCBI36
NG_009005.1:g.85394_85395del

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1379_1380del MANE Select	NP_000395.3:p.Val460AspfsTer?
ENST00000307363.10:c.1379_1380del MANE Select	ENSP00000306920.4:p.Val460AspfsTer?
NM_000404.2:c.1379_1380del	NP_000395.2:p.Val460AspfsTer?
NM_000404.3:c.1379_1380del	NP_000395.2:p.Val460AspfsTer?
NM_001079811.1:c.1289_1290del	NP_001073279.1:p.Val430AspfsTer?
NM_001079811.2:c.1289_1290del	NP_001073279.1:p.Val430AspfsTer?
NM_001079811.3:c.1289_1290del	NP_001073279.2:p.Val430AspfsTer?
NM_001135602.1:c.986_987del	NP_001129074.1:p.Val329AspfsTer?
NM_001135602.2:c.986_987del	NP_001129074.1:p.Val329AspfsTer?
NM_001135602.3:c.986_987del	NP_001129074.2:p.Val329AspfsTer?
NM_001317040.1:c.1523_1524del	NP_001303969.1:p.Val508AspfsTer?
NM_001317040.2:c.1523_1524del	NP_001303969.2:p.Val508AspfsTer?
NM_001393580.1:c.1379_1380del	NP_001380509.1:p.Val460AspfsTer?
ENST00000307363.9:c.1379_1380del	ENSP00000306920.4:p.Val460AspfsTer?
ENST00000307377.12:c.986_987del	ENSP00000305920.8:p.Val329AspfsTer?
ENST00000399402.7:c.1289_1290del	ENSP00000382333.2:p.Val430AspfsTer?
ENST00000461475.5:n.478_479del
ENST00000467571.5:n.416_417del
ENST00000497796.5:n.631_632del