Canonical Allele Identifier: CA2396008630

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724377_19724383delinsGCGGGCC , CM000684.2:g.19724377_19724383delinsGCGGGCC	GRCh38
NC_000022.10:g.19711900_19711906delinsGCGGGCC , CM000684.1:g.19711900_19711906delinsGCGGGCC	GRCh37
NC_000022.9:g.18091900_18091906delinsGCGGGCC	NCBI36
NG_007974.1:g.5835_5841delinsGCGGGCC , LRG_478:g.5835_5841delinsGCGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.534_540delinsGCGGGCC (GP1BB) MANE Select	ENSP00000383382.2:p.Leu178=
ENST00000366425.3:c.534_540delinsGCGGGCC (GP1BB)	ENSP00000383382.2:p.Leu178=
ENST00000431044.5:c.*1619_*1625delinsGCGGGCC (SEPTIN5)	ENSP00000399685.1:n.*1619_*1625delinsGCGGGCC
NM_000407.4:c.534_540delinsGCGGGCC , LRG_478t1:c.534_540delinsGCGGGCC (GP1BB)	NP_000398.1:p.Leu178=
NR_037611.1:n.4274_4280delinsGCGGGCC
NR_037612.1:n.2778_2784delinsGCGGGCC
NM_000407.5:c.534_540delinsGCGGGCC (GP1BB) MANE Select	NP_000398.1:p.Leu178=