Canonical Allele Identifier: CA2655305554

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724419-G-GACCGACCCGCTGGTGGCCGAGCGAGCCGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724426_19724455dup , CM000684.2:g.19724426_19724455dup	GRCh38
NC_000022.10:g.19711949_19711978dup , CM000684.1:g.19711949_19711978dup	GRCh37
NC_000022.9:g.18091949_18091978dup	NCBI36
NG_007974.1:g.5884_5913dup , LRG_478:g.5884_5913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.583_612dup (GP1BB) MANE Select	ENSP00000383382.2:p.Asp204_Glu205insProLeuValAlaGluArgAlaGlyT...
ENST00000366425.3:c.583_612dup (GP1BB)	ENSP00000383382.2:p.Asp204_Glu205insProLeuValAlaGluArgAlaGlyT...
ENST00000431044.5:c.*1668_*1697dup (SEPTIN5)	ENSP00000399685.1:n.*1668_*1697dup
NM_000407.4:c.583_612dup , LRG_478t1:c.583_612dup (GP1BB)	NP_000398.1:p.Asp204_Glu205insProLeuValAlaGluArgAlaGlyThrAsp
NR_037611.1:n.4323_4352dup
NR_037612.1:n.2827_2856dup
NM_000407.5:c.583_612dup (GP1BB) MANE Select	NP_000398.1:p.Asp204_Glu205insProLeuValAlaGluArgAlaGlyThrAsp