Canonical Allele Identifier: CA2580099106

Gene: GP1BB SEPTIN5

Linked Data

• ClinVar Variation Id: 1703859
• ClinVar RCV Id: RCV002281018

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724334dup , CM000684.2:g.19724334dup	GRCh38
NC_000022.10:g.19711857dup , CM000684.1:g.19711857dup	GRCh37
NC_000022.9:g.18091857dup	NCBI36
NG_007974.1:g.5792dup , LRG_478:g.5792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.491dup (GP1BB) MANE Select	ENSP00000383382.2:p.His164GlnfsTer?
ENST00000366425.3:c.491dup (GP1BB)	ENSP00000383382.2:p.His164GlnfsTer?
ENST00000431044.5:c.*1576dup (SEPTIN5)	ENSP00000399685.1:n.*1576dup
NM_000407.4:c.491dup , LRG_478t1:c.491dup (GP1BB)	NP_000398.1:p.His164GlnfsTer?
NR_037611.1:n.4231dup
NR_037612.1:n.2735dup
NM_000407.5:c.491dup (GP1BB) MANE Select	NP_000398.1:p.His164GlnfsTer?