Canonical Allele Identifier: CA2655305474

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724321-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724323del , CM000684.2:g.19724323del	GRCh38
NC_000022.10:g.19711846del , CM000684.1:g.19711846del	GRCh37
NC_000022.9:g.18091846del	NCBI36
NG_007974.1:g.5781del , LRG_478:g.5781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.480del (GP1BB) MANE Select	ENSP00000383382.2:p.Leu162CysfsTer?
ENST00000366425.3:c.480del (GP1BB)	ENSP00000383382.2:p.Leu162CysfsTer?
ENST00000431044.5:c.*1565del (SEPTIN5)	ENSP00000399685.1:n.*1565del
NM_000407.4:c.480del , LRG_478t1:c.480del (GP1BB)	NP_000398.1:p.Leu162CysfsTer?
NR_037611.1:n.4220del
NR_037612.1:n.2724del
NM_000407.5:c.480del (GP1BB) MANE Select	NP_000398.1:p.Leu162CysfsTer?