Canonical Allele Identifier: CA2396008665

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724423_19724426delinsGACC , CM000684.2:g.19724423_19724426delinsGACC	GRCh38
NC_000022.10:g.19711946_19711949delinsGACC , CM000684.1:g.19711946_19711949delinsGACC	GRCh37
NC_000022.9:g.18091946_18091949delinsGACC	NCBI36
NG_007974.1:g.5881_5884delinsGACC , LRG_478:g.5881_5884delinsGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.580_583delinsGACC (GP1BB) MANE Select	ENSP00000383382.2:p.Asp194=
ENST00000366425.3:c.580_583delinsGACC (GP1BB)	ENSP00000383382.2:p.Asp194=
ENST00000431044.5:c.*1665_*1668delinsGACC (SEPTIN5)	ENSP00000399685.1:n.*1665_*1668delinsGACC
NM_000407.4:c.580_583delinsGACC , LRG_478t1:c.580_583delinsGACC (GP1BB)	NP_000398.1:p.Asp194=
NR_037611.1:n.4320_4323delinsGACC
NR_037612.1:n.2824_2827delinsGACC
NM_000407.5:c.580_583delinsGACC (GP1BB) MANE Select	NP_000398.1:p.Asp194=