Canonical Allele Identifier: CA2396008307

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936106438
• gnomAD v4: 22-19723774-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723777del , CM000684.2:g.19723777del	GRCh38
NC_000022.10:g.19711300del , CM000684.1:g.19711300del	GRCh37
NC_000022.9:g.18091300del	NCBI36
NG_007974.1:g.5235del , LRG_478:g.5235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-77del (GP1BB) MANE Select	ENSP00000383382.2:n.11-77del
ENST00000366425.3:c.11-77del (GP1BB)	ENSP00000383382.2:n.11-77del
ENST00000431044.5:c.*1096-77del (SEPTIN5)	ENSP00000399685.1:n.*1096-77del
ENST00000455843.5:c.*1096-77del (SEPTIN5)	ENSP00000391731.1:n.*1096-77del
ENST00000470814.1:n.1983-77del (SEPTIN5)
NM_000407.4:c.11-77del , LRG_478t1:c.11-77del (GP1BB)	NP_000398.1:n.11-77del
NR_037611.1:n.3751-77del
NR_037612.1:n.2255-77del
NM_000407.5:c.11-77del (GP1BB) MANE Select	NP_000398.1:n.11-77del