Canonical Allele Identifier: CA658821296

Gene: GLB1

Linked Data

• ClinVar Variation Id: 557185
• ClinVar RCV Id: RCV000673292
• dbSNP Id: rs1553604655
• MyVariant Identifiers: chr3:g.32997068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997068del , CM000665.2:g.32997068del	GRCh38
NC_000003.11:g.33038560del , CM000665.1:g.33038560del	GRCh37
NC_000003.10:g.33013564del	NCBI36
NG_009005.1:g.105135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.2011del MANE Select	ENSP00000306920.4:p.Asp671IlefsTer15
ENST00000307363.9:c.2011del	ENSP00000306920.4:p.Asp671IlefsTer15
ENST00000307377.12:c.1618del	ENSP00000305920.8:p.Asp540IlefsTer15
ENST00000399402.7:c.1921del	ENSP00000382333.2:p.Asp641IlefsTer15
NM_000404.2:c.2011del	NP_000395.2:p.Asp671IlefsTer15
NM_000404.3:c.2011del	NP_000395.2:p.Asp671IlefsTer15
NM_001079811.1:c.1921del	NP_001073279.1:p.Asp641IlefsTer15
NM_001079811.2:c.1921del	NP_001073279.1:p.Asp641IlefsTer15
NM_001135602.1:c.1618del	NP_001129074.1:p.Asp540IlefsTer15
NM_001135602.2:c.1618del	NP_001129074.1:p.Asp540IlefsTer15
NM_001317040.1:c.2155del	NP_001303969.1:p.Asp719IlefsTer15
NM_000404.4:c.2011del MANE Select	NP_000395.3:p.Asp671IlefsTer15
NM_001079811.3:c.1921del	NP_001073279.2:p.Asp641IlefsTer15
NM_001135602.3:c.1618del	NP_001129074.2:p.Asp540IlefsTer15
NM_001317040.2:c.2155del	NP_001303969.2:p.Asp719IlefsTer15
NM_001393580.1:c.1734+16988del	NP_001380509.1:n.1734+16988del