Canonical Allele Identifier: CA2580060409

Gene: GP1BB SEPTIN5

Linked Data

• ClinVar Variation Id: 2664802
• ClinVar RCV Id: RCV003447777

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724083_19724089dup , CM000684.2:g.19724083_19724089dup	GRCh38
NC_000022.10:g.19711606_19711612dup , CM000684.1:g.19711606_19711612dup	GRCh37
NC_000022.9:g.18091606_18091612dup	NCBI36
NG_007974.1:g.5541_5547dup , LRG_478:g.5541_5547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.240_246dup (GP1BB) MANE Select	ENSP00000383382.2:p.Thr83AlafsTer?
ENST00000366425.3:c.240_246dup (GP1BB)	ENSP00000383382.2:p.Thr83AlafsTer?
ENST00000431044.5:c.*1325_*1331dup (SEPTIN5)	ENSP00000399685.1:n.*1325_*1331dup
ENST00000455843.5:c.*1325_*1331dup (SEPTIN5)	ENSP00000391731.1:n.*1325_*1331dup
ENST00000470814.1:n.2212_2218dup (SEPTIN5)
NM_000407.4:c.240_246dup , LRG_478t1:c.240_246dup (GP1BB)	NP_000398.1:p.Thr83AlafsTer?
NR_037611.1:n.3980_3986dup
NR_037612.1:n.2484_2490dup
NM_000407.5:c.240_246dup (GP1BB) MANE Select	NP_000398.1:p.Thr83AlafsTer?