Canonical Allele Identifier: CA2664924290

Gene: GLB1

Linked Data

• gnomAD v4: 3-33021547-ATTACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021550_33021554del , CM000665.2:g.33021550_33021554del	GRCh38
NC_000003.11:g.33063042_33063046del , CM000665.1:g.33063042_33063046del	GRCh37
NC_000003.10:g.33038046_33038050del	NCBI36
NG_009005.1:g.80651_80655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1233+14_1233+18del MANE Select	ENSP00000306920.4:n.1233+14_1233+18del
ENST00000307363.9:c.1233+14_1233+18del	ENSP00000306920.4:n.1233+14_1233+18del
ENST00000307377.12:c.840+14_840+18del	ENSP00000305920.8:n.840+14_840+18del
ENST00000399402.7:c.1143+14_1143+18del	ENSP00000382333.2:n.1143+14_1143+18del
ENST00000461475.5:n.332+14_332+18del
ENST00000467571.5:n.270+14_270+18del
ENST00000473477.1:n.279_283del
ENST00000497796.5:n.485+14_485+18del
NM_000404.2:c.1233+14_1233+18del	NP_000395.2:n.1233+14_1233+18del
NM_000404.3:c.1233+14_1233+18del	NP_000395.2:n.1233+14_1233+18del
NM_001079811.1:c.1143+14_1143+18del	NP_001073279.1:n.1143+14_1143+18del
NM_001079811.2:c.1143+14_1143+18del	NP_001073279.1:n.1143+14_1143+18del
NM_001135602.1:c.840+14_840+18del	NP_001129074.1:n.840+14_840+18del
NM_001135602.2:c.840+14_840+18del	NP_001129074.1:n.840+14_840+18del
NM_001317040.1:c.1377+14_1377+18del	NP_001303969.1:n.1377+14_1377+18del
XR_001740634.1:n.1543-638_1543-634del
NM_000404.4:c.1233+14_1233+18del MANE Select	NP_000395.3:n.1233+14_1233+18del
NM_001079811.3:c.1143+14_1143+18del	NP_001073279.2:n.1143+14_1143+18del
NM_001135602.3:c.840+14_840+18del	NP_001129074.2:n.840+14_840+18del
NM_001317040.2:c.1377+14_1377+18del	NP_001303969.2:n.1377+14_1377+18del
NM_001393580.1:c.1233+14_1233+18del	NP_001380509.1:n.1233+14_1233+18del