Canonical Allele Identifier: CA2396008629

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724376_19724398delinsTGCGGGCCCGGGCCCGCGCTCGC , CM000684.2:g.19724376_19724398delinsTGCGGGCCCGGGCCCGCGCTCGC	GRCh38
NC_000022.10:g.19711899_19711921delinsTGCGGGCCCGGGCCCGCGCTCGC , CM000684.1:g.19711899_19711921delinsTGCGGGCCCGGGCCCGCGCTCGC	GRCh37
NC_000022.9:g.18091899_18091921delinsTGCGGGCCCGGGCCCGCGCTCGC	NCBI36
NG_007974.1:g.5834_5856delinsTGCGGGCCCGGGCCCGCGCTCGC , LRG_478:g.5834_5856delinsTGCGGGCCCGGGCCCGCGCTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.533_555delinsTGCGGGCCCGGGCCCGCGCTCGC (GP1BB) MANE Select	ENSP00000383382.2:p.Leu178=
ENST00000366425.3:c.533_555delinsTGCGGGCCCGGGCCCGCGCTCGC (GP1BB)	ENSP00000383382.2:p.Leu178=
ENST00000431044.5:c.*1618_*1640delinsTGCGGGCCCGGGCCCGCGCTCGC (SEPTIN5)	ENSP00000399685.1:n.*1618_*1640delinsTGCGGGCCCGGGCCCGCGCTCGC
NM_000407.4:c.533_555delinsTGCGGGCCCGGGCCCGCGCTCGC , LRG_478t1:c.533_555delinsTGCGGGCCCGGGCCCGCGCTCGC (GP1BB)	NP_000398.1:p.Leu178=
NR_037611.1:n.4273_4295delinsTGCGGGCCCGGGCCCGCGCTCGC
NR_037612.1:n.2777_2799delinsTGCGGGCCCGGGCCCGCGCTCGC
NM_000407.5:c.533_555delinsTGCGGGCCCGGGCCCGCGCTCGC (GP1BB) MANE Select	NP_000398.1:p.Leu178=