Canonical Allele Identifier: CA2396008680

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724447_19724469delinsGGAACCGACGAGTCCTGAGGAGA , CM000684.2:g.19724447_19724469delinsGGAACCGACGAGTCCTGAGGAGA	GRCh38
NC_000022.10:g.19711970_19711992delinsGGAACCGACGAGTCCTGAGGAGA , CM000684.1:g.19711970_19711992delinsGGAACCGACGAGTCCTGAGGAGA	GRCh37
NC_000022.9:g.18091970_18091992delinsGGAACCGACGAGTCCTGAGGAGA	NCBI36
NG_007974.1:g.5905_5927delinsGGAACCGACGAGTCCTGAGGAGA , LRG_478:g.5905_5927delinsGGAACCGACGAGTCCTGAGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA (GP1BB) MANE Select	ENSP00000383382.2:n.[c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA;Gl...
ENST00000366425.3:c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA (GP1BB)	ENSP00000383382.2:n.[c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA;Gl...
ENST00000431044.5:c.*1689_*1711delinsGGAACCGACGAGTCCTGAGGAGA (SEPTIN5)	ENSP00000399685.1:n.*1689_*1711delinsGGAACCGACGAGTCCTGAGGAGA
NM_000407.4:c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA , LRG_478t1:c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA (GP1BB)	NP_000398.1:n.[c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA;Gly202=]...
NR_037611.1:n.4344_4366delinsGGAACCGACGAGTCCTGAGGAGA
NR_037612.1:n.2848_2870delinsGGAACCGACGAGTCCTGAGGAGA
NM_000407.5:c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA (GP1BB) MANE Select	NP_000398.1:n.[c.604_*5delinsGGAACCGACGAGTCCTGAGGAGA;Gly202=]...