Canonical Allele Identifier: CA2655305420

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724272-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724274del , CM000684.2:g.19724274del	GRCh38
NC_000022.10:g.19711797del , CM000684.1:g.19711797del	GRCh37
NC_000022.9:g.18091797del	NCBI36
NG_007974.1:g.5732del , LRG_478:g.5732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.431del (GP1BB) MANE Select	ENSP00000383382.2:p.Gly144AlafsTer?
ENST00000366425.3:c.431del (GP1BB)	ENSP00000383382.2:p.Gly144AlafsTer?
ENST00000431044.5:c.*1516del (SEPTIN5)	ENSP00000399685.1:n.*1516del
NM_000407.4:c.431del , LRG_478t1:c.431del (GP1BB)	NP_000398.1:p.Gly144AlafsTer?
NR_037611.1:n.4171del
NR_037612.1:n.2675del
NM_000407.5:c.431del (GP1BB) MANE Select	NP_000398.1:p.Gly144AlafsTer?