Canonical Allele Identifier: CA2396008467

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724070_19724079delinsACGCGCTGCC , CM000684.2:g.19724070_19724079delinsACGCGCTGCC	GRCh38
NC_000022.10:g.19711593_19711602delinsACGCGCTGCC , CM000684.1:g.19711593_19711602delinsACGCGCTGCC	GRCh37
NC_000022.9:g.18091593_18091602delinsACGCGCTGCC	NCBI36
NG_007974.1:g.5528_5537delinsACGCGCTGCC , LRG_478:g.5528_5537delinsACGCGCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.227_236delinsACGCGCTGCC (GP1BB) MANE Select	ENSP00000383382.2:p.Asp76=
ENST00000366425.3:c.227_236delinsACGCGCTGCC (GP1BB)	ENSP00000383382.2:p.Asp76=
ENST00000431044.5:c.*1312_*1321delinsACGCGCTGCC (SEPTIN5)	ENSP00000399685.1:n.*1312_*1321delinsACGCGCTGCC
ENST00000455843.5:c.*1312_*1321delinsACGCGCTGCC (SEPTIN5)	ENSP00000391731.1:n.*1312_*1321delinsACGCGCTGCC
ENST00000470814.1:n.2199_2208delinsACGCGCTGCC (SEPTIN5)
NM_000407.4:c.227_236delinsACGCGCTGCC , LRG_478t1:c.227_236delinsACGCGCTGCC (GP1BB)	NP_000398.1:p.Asp76=
NR_037611.1:n.3967_3976delinsACGCGCTGCC
NR_037612.1:n.2471_2480delinsACGCGCTGCC
NM_000407.5:c.227_236delinsACGCGCTGCC (GP1BB) MANE Select	NP_000398.1:p.Asp76=