Canonical Allele Identifier: CA2595212657

Gene: GLB1

Linked Data

• gnomAD v3: 3-32997360-CAG-C
• gnomAD v4: 3-32997360-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997364_32997365del , CM000665.2:g.32997364_32997365del	GRCh38
NC_000003.11:g.33038856_33038857del , CM000665.1:g.33038856_33038857del	GRCh37
NC_000003.10:g.33013860_33013861del	NCBI36
NG_009005.1:g.104841_104842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1735-18_1735-17del MANE Select	ENSP00000306920.4:n.1735-18_1735-17del
ENST00000307363.9:c.1735-18_1735-17del	ENSP00000306920.4:n.1735-18_1735-17del
ENST00000307377.12:c.1342-18_1342-17del	ENSP00000305920.8:n.1342-18_1342-17del
ENST00000399402.7:c.1645-18_1645-17del	ENSP00000382333.2:n.1645-18_1645-17del
NM_000404.2:c.1735-18_1735-17del	NP_000395.2:n.1735-18_1735-17del
NM_000404.3:c.1735-18_1735-17del	NP_000395.2:n.1735-18_1735-17del
NM_001079811.1:c.1645-18_1645-17del	NP_001073279.1:n.1645-18_1645-17del
NM_001079811.2:c.1645-18_1645-17del	NP_001073279.1:n.1645-18_1645-17del
NM_001135602.1:c.1342-18_1342-17del	NP_001129074.1:n.1342-18_1342-17del
NM_001135602.2:c.1342-18_1342-17del	NP_001129074.1:n.1342-18_1342-17del
NM_001317040.1:c.1879-18_1879-17del	NP_001303969.1:n.1879-18_1879-17del
NM_000404.4:c.1735-18_1735-17del MANE Select	NP_000395.3:n.1735-18_1735-17del
NM_001079811.3:c.1645-18_1645-17del	NP_001073279.2:n.1645-18_1645-17del
NM_001135602.3:c.1342-18_1342-17del	NP_001129074.2:n.1342-18_1342-17del
NM_001317040.2:c.1879-18_1879-17del	NP_001303969.2:n.1879-18_1879-17del
NM_001393580.1:c.1734+16694_1734+16695del	NP_001380509.1:n.1734+16694_1734+16695del