Canonical Allele Identifier: CA2577646875

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724399_19724400del , CM000684.2:g.19724399_19724400del	GRCh38
NC_000022.10:g.19711922_19711923del , CM000684.1:g.19711922_19711923del	GRCh37
NC_000022.9:g.18091922_18091923del	NCBI36
NG_007974.1:g.5857_5858del , LRG_478:g.5857_5858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.556_557del (GP1BB) MANE Select	ENSP00000383382.2:p.Ala186ArgfsTer?
ENST00000366425.3:c.556_557del (GP1BB)	ENSP00000383382.2:p.Ala186ArgfsTer?
ENST00000431044.5:c.*1641_*1642del (SEPTIN5)	ENSP00000399685.1:n.*1641_*1642del
NM_000407.4:c.556_557del , LRG_478t1:c.556_557del (GP1BB)	NP_000398.1:p.Ala186ArgfsTer?
NR_037611.1:n.4296_4297del
NR_037612.1:n.2800_2801del
NM_000407.5:c.556_557del (GP1BB) MANE Select	NP_000398.1:p.Ala186ArgfsTer?