Canonical Allele Identifier: CA2842925816

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724004_19724005del , CM000684.2:g.19724004_19724005del	GRCh38
NC_000022.10:g.19711527_19711528del , CM000684.1:g.19711527_19711528del	GRCh37
NC_000022.9:g.18091527_18091528del	NCBI36
NG_007974.1:g.5462_5463del , LRG_478:g.5462_5463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.161_162del (GP1BB) MANE Select	ENSP00000383382.2:p.Pro54ArgfsTer?
ENST00000366425.3:c.161_162del (GP1BB)	ENSP00000383382.2:p.Pro54ArgfsTer?
ENST00000431044.5:c.*1246_*1247del (SEPTIN5)	ENSP00000399685.1:n.*1246_*1247del
ENST00000455843.5:c.*1246_*1247del (SEPTIN5)	ENSP00000391731.1:n.*1246_*1247del
ENST00000470814.1:n.2133_2134del (SEPTIN5)
NM_000407.4:c.161_162del , LRG_478t1:c.161_162del (GP1BB)	NP_000398.1:p.Pro54ArgfsTer?
NR_037611.1:n.3901_3902del
NR_037612.1:n.2405_2406del
NM_000407.5:c.161_162del (GP1BB) MANE Select	NP_000398.1:p.Pro54ArgfsTer?