Canonical Allele Identifier: CA2396008590

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724298_19724314delinsCGGCGCAGCTTGCGCTG , CM000684.2:g.19724298_19724314delinsCGGCGCAGCTTGCGCTG	GRCh38
NC_000022.10:g.19711821_19711837delinsCGGCGCAGCTTGCGCTG , CM000684.1:g.19711821_19711837delinsCGGCGCAGCTTGCGCTG	GRCh37
NC_000022.9:g.18091821_18091837delinsCGGCGCAGCTTGCGCTG	NCBI36
NG_007974.1:g.5756_5772delinsCGGCGCAGCTTGCGCTG , LRG_478:g.5756_5772delinsCGGCGCAGCTTGCGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.455_471delinsCGGCGCAGCTTGCGCTG (GP1BB) MANE Select	ENSP00000383382.2:p.Ala152=
ENST00000366425.3:c.455_471delinsCGGCGCAGCTTGCGCTG (GP1BB)	ENSP00000383382.2:p.Ala152=
ENST00000431044.5:c.*1540_*1556delinsCGGCGCAGCTTGCGCTG (SEPTIN5)	ENSP00000399685.1:n.*1540_*1556delinsCGGCGCAGCTTGCGCTG
NM_000407.4:c.455_471delinsCGGCGCAGCTTGCGCTG , LRG_478t1:c.455_471delinsCGGCGCAGCTTGCGCTG (GP1BB)	NP_000398.1:p.Ala152=
NR_037611.1:n.4195_4211delinsCGGCGCAGCTTGCGCTG
NR_037612.1:n.2699_2715delinsCGGCGCAGCTTGCGCTG
NM_000407.5:c.455_471delinsCGGCGCAGCTTGCGCTG (GP1BB) MANE Select	NP_000398.1:p.Ala152=