Canonical Allele Identifier: CA2695230407

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724261_19724262dup , CM000684.2:g.19724261_19724262dup	GRCh38
NC_000022.10:g.19711784_19711785dup , CM000684.1:g.19711784_19711785dup	GRCh37
NC_000022.9:g.18091784_18091785dup	NCBI36
NG_007974.1:g.5719_5720dup , LRG_478:g.5719_5720dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.418_419dup (GP1BB) MANE Select	ENSP00000383382.2:p.Cys141LeufsTer?
ENST00000366425.3:c.418_419dup (GP1BB)	ENSP00000383382.2:p.Cys141LeufsTer?
ENST00000431044.5:c.*1503_*1504dup (SEPTIN5)	ENSP00000399685.1:n.*1503_*1504dup
NM_000407.4:c.418_419dup , LRG_478t1:c.418_419dup (GP1BB)	NP_000398.1:p.Cys141LeufsTer?
NR_037611.1:n.4158_4159dup
NR_037612.1:n.2662_2663dup
NM_000407.5:c.418_419dup (GP1BB) MANE Select	NP_000398.1:p.Cys141LeufsTer?