Canonical Allele Identifier: CA751435181

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1168633388
• gnomAD v3: 22-19724298-CGGCGCAGCTTGCGCTG-C
• gnomAD v4: 22-19724298-CGGCGCAGCTTGCGCTG-C
• MyVariant Identifiers: chr22:g.19711822_19711837del (hg19) ; chr22:g.19724299_19724314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724299_19724314del , CM000684.2:g.19724299_19724314del	GRCh38
NC_000022.10:g.19711822_19711837del , CM000684.1:g.19711822_19711837del	GRCh37
NC_000022.9:g.18091822_18091837del	NCBI36
NG_007974.1:g.5757_5772del , LRG_478:g.5757_5772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.456_471del (GP1BB) MANE Select	ENSP00000383382.2:p.Ala153TrpfsTer?
ENST00000366425.3:c.456_471del (GP1BB)	ENSP00000383382.2:p.Ala153TrpfsTer?
ENST00000431044.5:c.*1541_*1556del (SEPTIN5)	ENSP00000399685.1:n.*1541_*1556del
NM_000407.4:c.456_471del , LRG_478t1:c.456_471del (GP1BB)	NP_000398.1:p.Ala153TrpfsTer?
NR_037611.1:n.4196_4211del
NR_037612.1:n.2700_2715del
NM_000407.5:c.456_471del (GP1BB) MANE Select	NP_000398.1:p.Ala153TrpfsTer?