Canonical Allele Identifier: CA2299675

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2941466
• ClinVar RCV Id: RCV003795168
• dbSNP Id: rs764192020
• ExAC: 3:33106987 AGAG / A
• gnomAD v2: 3-33106987-AGAG-A
• gnomAD v4: 3-33065495-AGAG-A
• MyVariant Identifiers: chr3:g.33106988_33106990del (hg19) ; chr3:g.33065496_33065498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065499_33065501del , CM000665.2:g.33065499_33065501del	GRCh38
NC_000003.11:g.33106991_33106993del , CM000665.1:g.33106991_33106993del	GRCh37
NC_000003.10:g.33081995_33081997del	NCBI36
NG_009005.1:g.36705_36707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.517_519del MANE Select	ENSP00000306920.4:p.Leu173del
ENST00000307363.9:c.517_519del	ENSP00000306920.4:p.Leu173del
ENST00000307377.12:c.305_307del	ENSP00000305920.8:p.Pro102del
ENST00000399402.7:c.427_429del	ENSP00000382333.2:p.Leu143del
ENST00000415454.1:c.76-7229_76-7227del	ENSP00000411813.1:n.76-7229_76-7227del
ENST00000438227.1:c.*9_*11del	ENSP00000401250.1:n.*9_*11del
ENST00000440656.1:c.124_126del	ENSP00000411769.1:p.Leu42del
ENST00000446732.5:c.215_217del	ENSP00000407365.1:p.Pro72del
ENST00000464355.1:n.475_477del
ENST00000482097.5:n.109-11949_109-11947del
ENST00000485698.5:n.137-11949_137-11947del
ENST00000498537.5:n.133-11949_133-11947del
NM_000404.2:c.517_519del	NP_000395.2:p.Leu173del
NM_000404.3:c.517_519del	NP_000395.2:p.Leu173del
NM_001079811.1:c.427_429del	NP_001073279.1:p.Leu143del
NM_001079811.2:c.427_429del	NP_001073279.1:p.Leu143del
NM_001135602.1:c.305_307del	NP_001129074.1:p.Pro102del
NM_001135602.2:c.305_307del	NP_001129074.1:p.Pro102del
NM_001317040.1:c.661_663del	NP_001303969.1:p.Leu221del
NM_000404.4:c.517_519del MANE Select	NP_000395.3:p.Leu173del
NM_001079811.3:c.427_429del	NP_001073279.2:p.Leu143del
NM_001135602.3:c.305_307del	NP_001129074.2:p.Pro102del
NM_001317040.2:c.661_663del	NP_001303969.2:p.Leu221del
NM_001393580.1:c.517_519del	NP_001380509.1:p.Leu173del