Canonical Allele Identifier: CA2547586405

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997372_32997373insCCGTGCTGGAACTGGAGTGGGC , CM000665.2:g.32997372_32997373insCCGTGCTGGAACTGGAGTGGGC	GRCh38
NC_000003.11:g.33038864_33038865insCCGTGCTGGAACTGGAGTGGGC , CM000665.1:g.33038864_33038865insCCGTGCTGGAACTGGAGTGGGC	GRCh37
NC_000003.10:g.33013868_33013869insCCGTGCTGGAACTGGAGTGGGC	NCBI36
NG_009005.1:g.104830_104831insGCCCACTCCAGTTCCAGCACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG MANE Select	ENSP00000306920.4:n.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG
ENST00000307363.9:c.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG	ENSP00000306920.4:n.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG
ENST00000307377.12:c.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG	ENSP00000305920.8:n.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG
ENST00000399402.7:c.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG	ENSP00000382333.2:n.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG
NM_000404.2:c.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG	NP_000395.2:n.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG
NM_000404.3:c.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG	NP_000395.2:n.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG
NM_001079811.1:c.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG	NP_001073279.1:n.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG
NM_001079811.2:c.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG	NP_001073279.1:n.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG
NM_001135602.1:c.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG	NP_001129074.1:n.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG
NM_001135602.2:c.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG	NP_001129074.1:n.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG
NM_001317040.1:c.1879-29_1879-28insGCCCACTCCAGTTCCAGCACGG	NP_001303969.1:n.1879-29_1879-28insGCCCACTCCAGTTCCAGCACGG
NM_000404.4:c.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG MANE Select	NP_000395.3:n.1735-29_1735-28insGCCCACTCCAGTTCCAGCACGG
NM_001079811.3:c.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG	NP_001073279.2:n.1645-29_1645-28insGCCCACTCCAGTTCCAGCACGG
NM_001135602.3:c.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG	NP_001129074.2:n.1342-29_1342-28insGCCCACTCCAGTTCCAGCACGG
NM_001317040.2:c.1879-29_1879-28insGCCCACTCCAGTTCCAGCACGG	NP_001303969.2:n.1879-29_1879-28insGCCCACTCCAGTTCCAGCACGG
NM_001393580.1:c.1734+16683_1734+16684insGCCCACTCCAGTTCCAGCACGG	NP_001380509.1:n.1734+16683_1734+16684insGCCCACTCCAGTTCCAGCAC...