Canonical Allele Identifier: CA2396008295

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723757_19723759delinsCAG , CM000684.2:g.19723757_19723759delinsCAG	GRCh38
NC_000022.10:g.19711280_19711282delinsCAG , CM000684.1:g.19711280_19711282delinsCAG	GRCh37
NC_000022.9:g.18091280_18091282delinsCAG	NCBI36
NG_007974.1:g.5215_5217delinsCAG , LRG_478:g.5215_5217delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-97_11-95delinsCAG (GP1BB) MANE Select	ENSP00000383382.2:n.11-97_11-95delinsCAG
ENST00000366425.3:c.11-97_11-95delinsCAG (GP1BB)	ENSP00000383382.2:n.11-97_11-95delinsCAG
ENST00000431044.5:c.*1096-97_*1096-95delinsCAG (SEPTIN5)	ENSP00000399685.1:n.*1096-97_*1096-95delinsCAG
ENST00000455843.5:c.*1096-97_*1096-95delinsCAG (SEPTIN5)	ENSP00000391731.1:n.*1096-97_*1096-95delinsCAG
ENST00000470814.1:n.1983-97_1983-95delinsCAG (SEPTIN5)
NM_000407.4:c.11-97_11-95delinsCAG , LRG_478t1:c.11-97_11-95delinsCAG (GP1BB)	NP_000398.1:n.11-97_11-95delinsCAG
NR_037611.1:n.3751-97_3751-95delinsCAG
NR_037612.1:n.2255-97_2255-95delinsCAG
NM_000407.5:c.11-97_11-95delinsCAG (GP1BB) MANE Select	NP_000398.1:n.11-97_11-95delinsCAG