Canonical Allele Identifier: CA2655305320

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724064-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724065del , CM000684.2:g.19724065del	GRCh38
NC_000022.10:g.19711588del , CM000684.1:g.19711588del	GRCh37
NC_000022.9:g.18091588del	NCBI36
NG_007974.1:g.5523del , LRG_478:g.5523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.222del (GP1BB) MANE Select	ENSP00000383382.2:p.Leu75TrpfsTer?
ENST00000366425.3:c.222del (GP1BB)	ENSP00000383382.2:p.Leu75TrpfsTer?
ENST00000431044.5:c.*1307del (SEPTIN5)	ENSP00000399685.1:n.*1307del
ENST00000455843.5:c.*1307del (SEPTIN5)	ENSP00000391731.1:n.*1307del
ENST00000470814.1:n.2194del (SEPTIN5)
NM_000407.4:c.222del , LRG_478t1:c.222del (GP1BB)	NP_000398.1:p.Leu75TrpfsTer?
NR_037611.1:n.3962del
NR_037612.1:n.2466del
NM_000407.5:c.222del (GP1BB) MANE Select	NP_000398.1:p.Leu75TrpfsTer?