Canonical Allele Identifier: CA2655305322

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724109-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724113del , CM000684.2:g.19724113del	GRCh38
NC_000022.10:g.19711636del , CM000684.1:g.19711636del	GRCh37
NC_000022.9:g.18091636del	NCBI36
NG_007974.1:g.5571del , LRG_478:g.5571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.270del (GP1BB) MANE Select	ENSP00000383382.2:p.Trp91GlyfsTer?
ENST00000366425.3:c.270del (GP1BB)	ENSP00000383382.2:p.Trp91GlyfsTer?
ENST00000431044.5:c.*1355del (SEPTIN5)	ENSP00000399685.1:n.*1355del
ENST00000455843.5:c.*1355del (SEPTIN5)	ENSP00000391731.1:n.*1355del
ENST00000470814.1:n.2242del (SEPTIN5)
NM_000407.4:c.270del , LRG_478t1:c.270del (GP1BB)	NP_000398.1:p.Trp91GlyfsTer?
NR_037611.1:n.4010del
NR_037612.1:n.2514del
NM_000407.5:c.270del (GP1BB) MANE Select	NP_000398.1:p.Trp91GlyfsTer?