Canonical Allele Identifier: CA2740094331

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2941816
• ClinVar RCV Id: RCV003802838

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021610_33021611delinsAG , CM000665.2:g.33021610_33021611delinsAG	GRCh38
NC_000003.11:g.33063102_33063103delinsAG , CM000665.1:g.33063102_33063103delinsAG	GRCh37
NC_000003.10:g.33038106_33038107delinsAG	NCBI36
NG_009005.1:g.80592_80593delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1188_1189delinsCT MANE Select	ENSP00000306920.4:p.Pro397Ser
ENST00000307363.9:c.1188_1189delinsCT	ENSP00000306920.4:p.Pro397Ser
ENST00000307377.12:c.795_796delinsCT	ENSP00000305920.8:p.Pro266Ser
ENST00000399402.7:c.1098_1099delinsCT	ENSP00000382333.2:p.Pro367Ser
ENST00000461475.5:n.287_288delinsCT
ENST00000467571.5:n.225_226delinsCT
ENST00000473477.1:n.220_221delinsCT
ENST00000497796.5:n.440_441delinsCT
NM_000404.2:c.1188_1189delinsCT	NP_000395.2:p.Pro397Ser
NM_000404.3:c.1188_1189delinsCT	NP_000395.2:p.Pro397Ser
NM_001079811.1:c.1098_1099delinsCT	NP_001073279.1:p.Pro367Ser
NM_001079811.2:c.1098_1099delinsCT	NP_001073279.1:p.Pro367Ser
NM_001135602.1:c.795_796delinsCT	NP_001129074.1:p.Pro266Ser
NM_001135602.2:c.795_796delinsCT	NP_001129074.1:p.Pro266Ser
NM_001317040.1:c.1332_1333delinsCT	NP_001303969.1:p.Pro445Ser
XR_001740634.1:n.1543-578_1543-577delinsAG
NM_000404.4:c.1188_1189delinsCT MANE Select	NP_000395.3:p.Pro397Ser
NM_001079811.3:c.1098_1099delinsCT	NP_001073279.2:p.Pro367Ser
NM_001135602.3:c.795_796delinsCT	NP_001129074.2:p.Pro266Ser
NM_001317040.2:c.1332_1333delinsCT	NP_001303969.2:p.Pro445Ser
NM_001393580.1:c.1188_1189delinsCT	NP_001380509.1:p.Pro397Ser