Canonical Allele Identifier: CA2396008541

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724230_19724231delinsGC , CM000684.2:g.19724230_19724231delinsGC	GRCh38
NC_000022.10:g.19711753_19711754delinsGC , CM000684.1:g.19711753_19711754delinsGC	GRCh37
NC_000022.9:g.18091753_18091754delinsGC	NCBI36
NG_007974.1:g.5688_5689delinsGC , LRG_478:g.5688_5689delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.387_388delinsGC (GP1BB) MANE Select	ENSP00000383382.2:p.Leu129=
ENST00000366425.3:c.387_388delinsGC (GP1BB)	ENSP00000383382.2:p.Leu129=
ENST00000431044.5:c.*1472_*1473delinsGC (SEPTIN5)	ENSP00000399685.1:n.*1472_*1473delinsGC
NM_000407.4:c.387_388delinsGC , LRG_478t1:c.387_388delinsGC (GP1BB)	NP_000398.1:p.Leu129=
NR_037611.1:n.4127_4128delinsGC
NR_037612.1:n.2631_2632delinsGC
NM_000407.5:c.387_388delinsGC (GP1BB) MANE Select	NP_000398.1:p.Leu129=