Canonical Allele Identifier: CA2396008692

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724465_19724467delinsGGA , CM000684.2:g.19724465_19724467delinsGGA	GRCh38
NC_000022.10:g.19711988_19711990delinsGGA , CM000684.1:g.19711988_19711990delinsGGA	GRCh37
NC_000022.9:g.18091988_18091990delinsGGA	NCBI36
NG_007974.1:g.5923_5925delinsGGA , LRG_478:g.5923_5925delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*1_*3delinsGGA (GP1BB) MANE Select	ENSP00000383382.2:n.*1_*3delinsGGA
ENST00000366425.3:c.*1_*3delinsGGA (GP1BB)	ENSP00000383382.2:n.*1_*3delinsGGA
ENST00000431044.5:c.*1707_*1709delinsGGA (SEPTIN5)	ENSP00000399685.1:n.*1707_*1709delinsGGA
NM_000407.4:c.*1_*3delinsGGA , LRG_478t1:c.*1_*3delinsGGA (GP1BB)	NP_000398.1:n.*1_*3delinsGGA
NR_037611.1:n.4362_4364delinsGGA
NR_037612.1:n.2866_2868delinsGGA
NM_000407.5:c.*1_*3delinsGGA (GP1BB) MANE Select	NP_000398.1:n.*1_*3delinsGGA