Canonical Allele Identifier: CA2842925815

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723977del , CM000684.2:g.19723977del	GRCh38
NC_000022.10:g.19711500del , CM000684.1:g.19711500del	GRCh37
NC_000022.9:g.18091500del	NCBI36
NG_007974.1:g.5435del , LRG_478:g.5435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.134del (GP1BB) MANE Select	ENSP00000383382.2:p.Thr45IlefsTer18
ENST00000366425.3:c.134del (GP1BB)	ENSP00000383382.2:p.Thr45IlefsTer18
ENST00000431044.5:c.*1219del (SEPTIN5)	ENSP00000399685.1:n.*1219del
ENST00000455843.5:c.*1219del (SEPTIN5)	ENSP00000391731.1:n.*1219del
ENST00000470814.1:n.2106del (SEPTIN5)
NM_000407.4:c.134del , LRG_478t1:c.134del (GP1BB)	NP_000398.1:p.Thr45IlefsTer18
NR_037611.1:n.3874del
NR_037612.1:n.2378del
NM_000407.5:c.134del (GP1BB) MANE Select	NP_000398.1:p.Thr45IlefsTer18