Canonical Allele Identifier: CA891862736

Gene: GLB1

Linked Data

• ClinVar Variation Id: 591620
• ClinVar RCV Id: RCV000722801 ; RCV001868921
• dbSNP Id: rs1559385898
• gnomAD v4: 3-33021607-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021610del , CM000665.2:g.33021610del	GRCh38
NC_000003.11:g.33063102del , CM000665.1:g.33063102del	GRCh37
NC_000003.10:g.33038106del	NCBI36
NG_009005.1:g.80595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1191del MANE Select	ENSP00000306920.4:p.Ile398SerfsTer7
ENST00000307363.9:c.1191del	ENSP00000306920.4:p.Ile398SerfsTer7
ENST00000307377.12:c.798del	ENSP00000305920.8:p.Ile267SerfsTer7
ENST00000399402.7:c.1101del	ENSP00000382333.2:p.Ile368SerfsTer7
ENST00000461475.5:n.290del
ENST00000467571.5:n.228del
ENST00000473477.1:n.223del
ENST00000497796.5:n.443del
NM_000404.2:c.1191del	NP_000395.2:p.Ile398SerfsTer7
NM_000404.3:c.1191del	NP_000395.2:p.Ile398SerfsTer7
NM_001079811.1:c.1101del	NP_001073279.1:p.Ile368SerfsTer7
NM_001079811.2:c.1101del	NP_001073279.1:p.Ile368SerfsTer7
NM_001135602.1:c.798del	NP_001129074.1:p.Ile267SerfsTer7
NM_001135602.2:c.798del	NP_001129074.1:p.Ile267SerfsTer7
NM_001317040.1:c.1335del	NP_001303969.1:p.Ile446SerfsTer7
XR_001740634.1:n.1543-578del
NM_000404.4:c.1191del MANE Select	NP_000395.3:p.Ile398SerfsTer7
NM_001079811.3:c.1101del	NP_001073279.2:p.Ile368SerfsTer7
NM_001135602.3:c.798del	NP_001129074.2:p.Ile267SerfsTer7
NM_001317040.2:c.1335del	NP_001303969.2:p.Ile446SerfsTer7
NM_001393580.1:c.1191del	NP_001380509.1:p.Ile398SerfsTer7