Canonical Allele Identifier: CA2655305497

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724351-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724352dup , CM000684.2:g.19724352dup	GRCh38
NC_000022.10:g.19711875dup , CM000684.1:g.19711875dup	GRCh37
NC_000022.9:g.18091875dup	NCBI36
NG_007974.1:g.5810dup , LRG_478:g.5810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.509dup (GP1BB) MANE Select	ENSP00000383382.2:p.Leu171AlafsTer?
ENST00000366425.3:c.509dup (GP1BB)	ENSP00000383382.2:p.Leu171AlafsTer?
ENST00000431044.5:c.*1594dup (SEPTIN5)	ENSP00000399685.1:n.*1594dup
NM_000407.4:c.509dup , LRG_478t1:c.509dup (GP1BB)	NP_000398.1:p.Leu171AlafsTer?
NR_037611.1:n.4249dup
NR_037612.1:n.2753dup
NM_000407.5:c.509dup (GP1BB) MANE Select	NP_000398.1:p.Leu171AlafsTer?