Canonical Allele Identifier: CA645531969

Gene: GLB1

Linked Data

• COSMIC: COSM111422

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058130_33058131del , CM000665.2:g.33058130_33058131del	GRCh38
NC_000003.11:g.33099622_33099623del , CM000665.1:g.33099622_33099623del	GRCh37
NC_000003.10:g.33074626_33074627del	NCBI36
NG_009005.1:g.44074_44075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.693_694del MANE Select	ENSP00000306920.4:p.Ala232ProfsTer27
ENST00000307363.9:c.693_694del	ENSP00000306920.4:p.Ala232ProfsTer27
ENST00000307377.12:c.341-4580_341-4579del	ENSP00000305920.8:n.341-4580_341-4579del
ENST00000399402.7:c.603_604del	ENSP00000382333.2:p.Ala202ProfsTer27
ENST00000415454.1:c.216_217del	ENSP00000411813.1:p.Ala73ProfsTer27
ENST00000438227.1:c.*185_*186del	ENSP00000401250.1:n.*185_*186del
ENST00000440656.1:c.300_301del	ENSP00000411769.1:p.Ala101ProfsTer?
ENST00000446732.5:c.*136_*137del	ENSP00000407365.1:n.*136_*137del
ENST00000482097.5:n.109-4580_109-4579del
ENST00000485698.5:n.137-4580_137-4579del
ENST00000498537.5:n.133-4580_133-4579del
NM_000404.2:c.693_694del	NP_000395.2:p.Ala232ProfsTer27
NM_000404.3:c.693_694del	NP_000395.2:p.Ala232ProfsTer27
NM_001079811.1:c.603_604del	NP_001073279.1:p.Ala202ProfsTer27
NM_001079811.2:c.603_604del	NP_001073279.1:p.Ala202ProfsTer27
NM_001135602.1:c.341-4580_341-4579del	NP_001129074.1:n.341-4580_341-4579del
NM_001135602.2:c.341-4580_341-4579del	NP_001129074.1:n.341-4580_341-4579del
NM_001317040.1:c.837_838del	NP_001303969.1:p.Ala280ProfsTer27
NM_000404.4:c.693_694del MANE Select	NP_000395.3:p.Ala232ProfsTer27
NM_001079811.3:c.603_604del	NP_001073279.2:p.Ala202ProfsTer27
NM_001135602.3:c.341-4580_341-4579del	NP_001129074.2:n.341-4580_341-4579del
NM_001317040.2:c.837_838del	NP_001303969.2:p.Ala280ProfsTer27
NM_001393580.1:c.693_694del	NP_001380509.1:p.Ala232ProfsTer27