Canonical Allele Identifier: CA2577646876

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724418dup , CM000684.2:g.19724418dup	GRCh38
NC_000022.10:g.19711941dup , CM000684.1:g.19711941dup	GRCh37
NC_000022.9:g.18091941dup	NCBI36
NG_007974.1:g.5876dup , LRG_478:g.5876dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.575dup (GP1BB) MANE Select	ENSP00000383382.2:p.Thr193AspfsTer?
ENST00000366425.3:c.575dup (GP1BB)	ENSP00000383382.2:p.Thr193AspfsTer?
ENST00000431044.5:c.*1660dup (SEPTIN5)	ENSP00000399685.1:n.*1660dup
NM_000407.4:c.575dup , LRG_478t1:c.575dup (GP1BB)	NP_000398.1:p.Thr193AspfsTer?
NR_037611.1:n.4315dup
NR_037612.1:n.2819dup
NM_000407.5:c.575dup (GP1BB) MANE Select	NP_000398.1:p.Thr193AspfsTer?