Canonical Allele Identifier: CA2655305518

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724376-TGCGGGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724378_19724385del , CM000684.2:g.19724378_19724385del	GRCh38
NC_000022.10:g.19711901_19711908del , CM000684.1:g.19711901_19711908del	GRCh37
NC_000022.9:g.18091901_18091908del	NCBI36
NG_007974.1:g.5836_5843del , LRG_478:g.5836_5843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.535_542del (GP1BB) MANE Select	ENSP00000383382.2:p.Arg179GlyfsTer?
ENST00000366425.3:c.535_542del (GP1BB)	ENSP00000383382.2:p.Arg179GlyfsTer?
ENST00000431044.5:c.*1620_*1627del (SEPTIN5)	ENSP00000399685.1:n.*1620_*1627del
NM_000407.4:c.535_542del , LRG_478t1:c.535_542del (GP1BB)	NP_000398.1:p.Arg179GlyfsTer?
NR_037611.1:n.4275_4282del
NR_037612.1:n.2779_2786del
NM_000407.5:c.535_542del (GP1BB) MANE Select	NP_000398.1:p.Arg179GlyfsTer?