Canonical Allele Identifier: CA2695200063

Gene: GP1BB SEPTIN5

Linked Data

• ClinVar Variation Id: 2637189
• ClinVar RCV Id: RCV003421173

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724055_19724087del , CM000684.2:g.19724055_19724087del	GRCh38
NC_000022.10:g.19711578_19711610del , CM000684.1:g.19711578_19711610del	GRCh37
NC_000022.9:g.18091578_18091610del	NCBI36
NG_007974.1:g.5513_5545del , LRG_478:g.5513_5545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.212_244del (GP1BB) MANE Select	ENSP00000383382.2:p.Pro71_Leu81del
ENST00000366425.3:c.212_244del (GP1BB)	ENSP00000383382.2:p.Pro71_Leu81del
ENST00000431044.5:c.*1297_*1329del (SEPTIN5)	ENSP00000399685.1:n.*1297_*1329del
ENST00000455843.5:c.*1297_*1329del (SEPTIN5)	ENSP00000391731.1:n.*1297_*1329del
ENST00000470814.1:n.2184_2216del (SEPTIN5)
NM_000407.4:c.212_244del , LRG_478t1:c.212_244del (GP1BB)	NP_000398.1:p.Pro71_Leu81del
NR_037611.1:n.3952_3984del
NR_037612.1:n.2456_2488del
NM_000407.5:c.212_244del (GP1BB) MANE Select	NP_000398.1:p.Pro71_Leu81del