Canonical Allele Identifier: CA432960398

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33038758del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997269del , CM000665.2:g.32997269del	GRCh38
NC_000003.11:g.33038761del , CM000665.1:g.33038761del	GRCh37
NC_000003.10:g.33013765del	NCBI36
NG_009005.1:g.104937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1813del MANE Select	ENSP00000306920.4:p.Gln605SerfsTer4
ENST00000307363.9:c.1813del	ENSP00000306920.4:p.Gln605SerfsTer4
ENST00000307377.12:c.1420del	ENSP00000305920.8:p.Gln474SerfsTer4
ENST00000399402.7:c.1723del	ENSP00000382333.2:p.Gln575SerfsTer4
NM_000404.2:c.1813del	NP_000395.2:p.Gln605SerfsTer4
NM_000404.3:c.1813del	NP_000395.2:p.Gln605SerfsTer4
NM_001079811.1:c.1723del	NP_001073279.1:p.Gln575SerfsTer4
NM_001079811.2:c.1723del	NP_001073279.1:p.Gln575SerfsTer4
NM_001135602.1:c.1420del	NP_001129074.1:p.Gln474SerfsTer4
NM_001135602.2:c.1420del	NP_001129074.1:p.Gln474SerfsTer4
NM_001317040.1:c.1957del	NP_001303969.1:p.Gln653SerfsTer4
NM_000404.4:c.1813del MANE Select	NP_000395.3:p.Gln605SerfsTer4
NM_001079811.3:c.1723del	NP_001073279.2:p.Gln575SerfsTer4
NM_001135602.3:c.1420del	NP_001129074.2:p.Gln474SerfsTer4
NM_001317040.2:c.1957del	NP_001303969.2:p.Gln653SerfsTer4
NM_001393580.1:c.1734+16790del	NP_001380509.1:n.1734+16790del