Canonical Allele Identifier: CA2564244447

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021642_33021644del , CM000665.2:g.33021642_33021644del	GRCh38
NC_000003.11:g.33063134_33063136del , CM000665.1:g.33063134_33063136del	GRCh37
NC_000003.10:g.33038138_33038140del	NCBI36
NG_009005.1:g.80559_80561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1155_1157del MANE Select	ENSP00000306920.4:p.Gly386del
ENST00000307363.9:c.1155_1157del	ENSP00000306920.4:p.Gly386del
ENST00000307377.12:c.762_764del	ENSP00000305920.8:p.Gly255del
ENST00000399402.7:c.1065_1067del	ENSP00000382333.2:p.Gly356del
ENST00000461475.5:n.254_256del
ENST00000467571.5:n.192_194del
ENST00000473477.1:n.187_189del
ENST00000482097.5:n.530_532del
ENST00000497796.5:n.407_409del
NM_000404.2:c.1155_1157del	NP_000395.2:p.Gly386del
NM_000404.3:c.1155_1157del	NP_000395.2:p.Gly386del
NM_001079811.1:c.1065_1067del	NP_001073279.1:p.Gly356del
NM_001079811.2:c.1065_1067del	NP_001073279.1:p.Gly356del
NM_001135602.1:c.762_764del	NP_001129074.1:p.Gly255del
NM_001135602.2:c.762_764del	NP_001129074.1:p.Gly255del
NM_001317040.1:c.1299_1301del	NP_001303969.1:p.Gly434del
XR_001740634.1:n.1543-546_1543-544del
NM_000404.4:c.1155_1157del MANE Select	NP_000395.3:p.Gly386del
NM_001079811.3:c.1065_1067del	NP_001073279.2:p.Gly356del
NM_001135602.3:c.762_764del	NP_001129074.2:p.Gly255del
NM_001317040.2:c.1299_1301del	NP_001303969.2:p.Gly434del
NM_001393580.1:c.1155_1157del	NP_001380509.1:p.Gly386del