Canonical Allele Identifier: CA2565527279

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724162-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724163del , CM000684.2:g.19724163del	GRCh38
NC_000022.10:g.19711686del , CM000684.1:g.19711686del	GRCh37
NC_000022.9:g.18091686del	NCBI36
NG_007974.1:g.5621del , LRG_478:g.5621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.320del (GP1BB) MANE Select	ENSP00000383382.2:p.Arg107ProfsTer?
ENST00000366425.3:c.320del (GP1BB)	ENSP00000383382.2:p.Arg107ProfsTer?
ENST00000431044.5:c.*1405del (SEPTIN5)	ENSP00000399685.1:n.*1405del
ENST00000455843.5:c.*1405del (SEPTIN5)	ENSP00000391731.1:n.*1405del
ENST00000470814.1:n.2292del (SEPTIN5)
NM_000407.4:c.320del , LRG_478t1:c.320del (GP1BB)	NP_000398.1:p.Arg107ProfsTer?
NR_037611.1:n.4060del
NR_037612.1:n.2564del
NM_000407.5:c.320del (GP1BB) MANE Select	NP_000398.1:p.Arg107ProfsTer?