Canonical Allele Identifier: CA2655305317

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724015-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724017dup , CM000684.2:g.19724017dup	GRCh38
NC_000022.10:g.19711540dup , CM000684.1:g.19711540dup	GRCh37
NC_000022.9:g.18091540dup	NCBI36
NG_007974.1:g.5475dup , LRG_478:g.5475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.174dup (GP1BB) MANE Select	ENSP00000383382.2:p.Glu59ArgfsTer?
ENST00000366425.3:c.174dup (GP1BB)	ENSP00000383382.2:p.Glu59ArgfsTer?
ENST00000431044.5:c.*1259dup (SEPTIN5)	ENSP00000399685.1:n.*1259dup
ENST00000455843.5:c.*1259dup (SEPTIN5)	ENSP00000391731.1:n.*1259dup
ENST00000470814.1:n.2146dup (SEPTIN5)
NM_000407.4:c.174dup , LRG_478t1:c.174dup (GP1BB)	NP_000398.1:p.Glu59ArgfsTer?
NR_037611.1:n.3914dup
NR_037612.1:n.2418dup
NM_000407.5:c.174dup (GP1BB) MANE Select	NP_000398.1:p.Glu59ArgfsTer?