Canonical Allele Identifier: CA2655305450

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724292-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724293del , CM000684.2:g.19724293del	GRCh38
NC_000022.10:g.19711816del , CM000684.1:g.19711816del	GRCh37
NC_000022.9:g.18091816del	NCBI36
NG_007974.1:g.5751del , LRG_478:g.5751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.450del (GP1BB) MANE Select	ENSP00000383382.2:p.Leu151TrpfsTer?
ENST00000366425.3:c.450del (GP1BB)	ENSP00000383382.2:p.Leu151TrpfsTer?
ENST00000431044.5:c.*1535del (SEPTIN5)	ENSP00000399685.1:n.*1535del
NM_000407.4:c.450del , LRG_478t1:c.450del (GP1BB)	NP_000398.1:p.Leu151TrpfsTer?
NR_037611.1:n.4190del
NR_037612.1:n.2694del
NM_000407.5:c.450del (GP1BB) MANE Select	NP_000398.1:p.Leu151TrpfsTer?