Canonical Allele Identifier: CA2577646868

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723908del , CM000684.2:g.19723908del	GRCh38
NC_000022.10:g.19711431del , CM000684.1:g.19711431del	GRCh37
NC_000022.9:g.18091431del	NCBI36
NG_007974.1:g.5366del , LRG_478:g.5366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.65del (GP1BB) MANE Select	ENSP00000383382.2:p.Pro22ArgfsTer23
ENST00000366425.3:c.65del (GP1BB)	ENSP00000383382.2:p.Pro22ArgfsTer23
ENST00000431044.5:c.*1150del (SEPTIN5)	ENSP00000399685.1:n.*1150del
ENST00000455843.5:c.*1150del (SEPTIN5)	ENSP00000391731.1:n.*1150del
ENST00000470814.1:n.2037del (SEPTIN5)
NM_000407.4:c.65del , LRG_478t1:c.65del (GP1BB)	NP_000398.1:p.Pro22ArgfsTer23
NR_037611.1:n.3805del
NR_037612.1:n.2309del
NM_000407.5:c.65del (GP1BB) MANE Select	NP_000398.1:p.Pro22ArgfsTer23