Canonical Allele Identifier: CA2396008354

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723847_19723848delinsCT , CM000684.2:g.19723847_19723848delinsCT	GRCh38
NC_000022.10:g.19711370_19711371delinsCT , CM000684.1:g.19711370_19711371delinsCT	GRCh37
NC_000022.9:g.18091370_18091371delinsCT	NCBI36
NG_007974.1:g.5305_5306delinsCT , LRG_478:g.5305_5306delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-7_11-6delinsCT (GP1BB) MANE Select	ENSP00000383382.2:n.11-7_11-6delinsCT
ENST00000366425.3:c.11-7_11-6delinsCT (GP1BB)	ENSP00000383382.2:n.11-7_11-6delinsCT
ENST00000431044.5:c.*1096-7_*1096-6delinsCT (SEPTIN5)	ENSP00000399685.1:n.*1096-7_*1096-6delinsCT
ENST00000455843.5:c.*1096-7_*1096-6delinsCT (SEPTIN5)	ENSP00000391731.1:n.*1096-7_*1096-6delinsCT
ENST00000470814.1:n.1983-7_1983-6delinsCT (SEPTIN5)
NM_000407.4:c.11-7_11-6delinsCT , LRG_478t1:c.11-7_11-6delinsCT (GP1BB)	NP_000398.1:n.11-7_11-6delinsCT
NR_037611.1:n.3751-7_3751-6delinsCT
NR_037612.1:n.2255-7_2255-6delinsCT
NM_000407.5:c.11-7_11-6delinsCT (GP1BB) MANE Select	NP_000398.1:n.11-7_11-6delinsCT