Canonical Allele Identifier: CA2396008611

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724348_19724351delinsGTGC , CM000684.2:g.19724348_19724351delinsGTGC	GRCh38
NC_000022.10:g.19711871_19711874delinsGTGC , CM000684.1:g.19711871_19711874delinsGTGC	GRCh37
NC_000022.9:g.18091871_18091874delinsGTGC	NCBI36
NG_007974.1:g.5806_5809delinsGTGC , LRG_478:g.5806_5809delinsGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.505_508delinsGTGC (GP1BB) MANE Select	ENSP00000383382.2:p.Val169=
ENST00000366425.3:c.505_508delinsGTGC (GP1BB)	ENSP00000383382.2:p.Val169=
ENST00000431044.5:c.*1590_*1593delinsGTGC (SEPTIN5)	ENSP00000399685.1:n.*1590_*1593delinsGTGC
NM_000407.4:c.505_508delinsGTGC , LRG_478t1:c.505_508delinsGTGC (GP1BB)	NP_000398.1:p.Val169=
NR_037611.1:n.4245_4248delinsGTGC
NR_037612.1:n.2749_2752delinsGTGC
NM_000407.5:c.505_508delinsGTGC (GP1BB) MANE Select	NP_000398.1:p.Val169=