Canonical Allele Identifier: CA2755766420

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068926_33068927del , CM000665.2:g.33068926_33068927del	GRCh38
NC_000003.11:g.33110418_33110419del , CM000665.1:g.33110418_33110419del	GRCh37
NC_000003.10:g.33085422_33085423del	NCBI36
NG_009005.1:g.33276_33277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.289_290del MANE Select	ENSP00000306920.4:p.Gln97ValfsTer3
ENST00000307363.9:c.289_290del	ENSP00000306920.4:p.Gln97ValfsTer3
ENST00000307377.12:c.246-3370_246-3369del	ENSP00000305920.8:n.246-3370_246-3369del
ENST00000399402.7:c.199_200del	ENSP00000382333.2:p.Gln67ValfsTer3
ENST00000415454.1:c.76-10658_76-10657del	ENSP00000411813.1:n.76-10658_76-10657del
ENST00000436768.1:c.433_434del	ENSP00000387989.1:p.Gln145ValfsTer?
ENST00000438227.1:c.76-3370_76-3369del	ENSP00000401250.1:n.76-3370_76-3369del
ENST00000440656.1:c.-105_-104del	ENSP00000411769.1:n.-105_-104del
ENST00000446732.5:c.156-3370_156-3369del	ENSP00000407365.1:n.156-3370_156-3369del
ENST00000450835.1:c.199_200del	ENSP00000403264.1:p.Gln67ValfsTer3
ENST00000464355.1:n.247_248del
ENST00000482097.5:n.109-15378_109-15377del
ENST00000485698.5:n.137-15378_137-15377del
ENST00000498537.5:n.133-15378_133-15377del
NM_000404.2:c.289_290del	NP_000395.2:p.Gln97ValfsTer3
NM_000404.3:c.289_290del	NP_000395.2:p.Gln97ValfsTer3
NM_001079811.1:c.199_200del	NP_001073279.1:p.Gln67ValfsTer3
NM_001079811.2:c.199_200del	NP_001073279.1:p.Gln67ValfsTer3
NM_001135602.1:c.246-3370_246-3369del	NP_001129074.1:n.246-3370_246-3369del
NM_001135602.2:c.246-3370_246-3369del	NP_001129074.1:n.246-3370_246-3369del
NM_001317040.1:c.433_434del	NP_001303969.1:p.Gln145ValfsTer3
NM_000404.4:c.289_290del MANE Select	NP_000395.3:p.Gln97ValfsTer3
NM_001079811.3:c.199_200del	NP_001073279.2:p.Gln67ValfsTer3
NM_001135602.3:c.246-3370_246-3369del	NP_001129074.2:n.246-3370_246-3369del
NM_001317040.2:c.433_434del	NP_001303969.2:p.Gln145ValfsTer3
NM_001393580.1:c.289_290del	NP_001380509.1:p.Gln97ValfsTer3