Canonical Allele Identifier: CA2514682387

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997295dup , CM000665.2:g.32997295dup	GRCh38
NC_000003.11:g.33038787dup , CM000665.1:g.33038787dup	GRCh37
NC_000003.10:g.33013791dup	NCBI36
NG_009005.1:g.104911dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1787dup MANE Select	ENSP00000306920.4:p.Gln598SerfsTer?
ENST00000307363.9:c.1787dup	ENSP00000306920.4:p.Gln598SerfsTer?
ENST00000307377.12:c.1394dup	ENSP00000305920.8:p.Gln467SerfsTer?
ENST00000399402.7:c.1697dup	ENSP00000382333.2:p.Gln568SerfsTer?
NM_000404.2:c.1787dup	NP_000395.2:p.Gln598SerfsTer?
NM_000404.3:c.1787dup	NP_000395.2:p.Gln598SerfsTer?
NM_001079811.1:c.1697dup	NP_001073279.1:p.Gln568SerfsTer?
NM_001079811.2:c.1697dup	NP_001073279.1:p.Gln568SerfsTer?
NM_001135602.1:c.1394dup	NP_001129074.1:p.Gln467SerfsTer?
NM_001135602.2:c.1394dup	NP_001129074.1:p.Gln467SerfsTer?
NM_001317040.1:c.1931dup	NP_001303969.1:p.Gln646SerfsTer?
NM_000404.4:c.1787dup MANE Select	NP_000395.3:p.Gln598SerfsTer?
NM_001079811.3:c.1697dup	NP_001073279.2:p.Gln568SerfsTer?
NM_001135602.3:c.1394dup	NP_001129074.2:p.Gln467SerfsTer?
NM_001317040.2:c.1931dup	NP_001303969.2:p.Gln646SerfsTer?
NM_001393580.1:c.1734+16764dup	NP_001380509.1:n.1734+16764dup