Canonical Allele Identifier: CA2586971832

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997251_32997254del , CM000665.2:g.32997251_32997254del	GRCh38
NC_000003.11:g.33038743_33038746del , CM000665.1:g.33038743_33038746del	GRCh37
NC_000003.10:g.33013747_33013750del	NCBI36
NG_009005.1:g.104949_104952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1825_1828del MANE Select	ENSP00000306920.4:p.Met609ProfsTer27
ENST00000307363.9:c.1825_1828del	ENSP00000306920.4:p.Met609ProfsTer27
ENST00000307377.12:c.1432_1435del	ENSP00000305920.8:p.Met478ProfsTer27
ENST00000399402.7:c.1735_1738del	ENSP00000382333.2:p.Met579ProfsTer27
NM_000404.2:c.1825_1828del	NP_000395.2:p.Met609ProfsTer27
NM_000404.3:c.1825_1828del	NP_000395.2:p.Met609ProfsTer27
NM_001079811.1:c.1735_1738del	NP_001073279.1:p.Met579ProfsTer27
NM_001079811.2:c.1735_1738del	NP_001073279.1:p.Met579ProfsTer27
NM_001135602.1:c.1432_1435del	NP_001129074.1:p.Met478ProfsTer27
NM_001135602.2:c.1432_1435del	NP_001129074.1:p.Met478ProfsTer27
NM_001317040.1:c.1969_1972del	NP_001303969.1:p.Met657ProfsTer27
NM_000404.4:c.1825_1828del MANE Select	NP_000395.3:p.Met609ProfsTer27
NM_001079811.3:c.1735_1738del	NP_001073279.2:p.Met579ProfsTer27
NM_001135602.3:c.1432_1435del	NP_001129074.2:p.Met478ProfsTer27
NM_001317040.2:c.1969_1972del	NP_001303969.2:p.Met657ProfsTer27
NM_001393580.1:c.1734+16802_1734+16805del	NP_001380509.1:n.1734+16802_1734+16805del