Canonical Allele Identifier: CA2655305323

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724112-C-CCTGGCGCTGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724116_19724127dup , CM000684.2:g.19724116_19724127dup	GRCh38
NC_000022.10:g.19711639_19711650dup , CM000684.1:g.19711639_19711650dup	GRCh37
NC_000022.9:g.18091639_18091650dup	NCBI36
NG_007974.1:g.5574_5585dup , LRG_478:g.5574_5585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.273_284dup (GP1BB) MANE Select	ENSP00000383382.2:p.Asp94_Cys95insTrpArgCysAsp
ENST00000366425.3:c.273_284dup (GP1BB)	ENSP00000383382.2:p.Asp94_Cys95insTrpArgCysAsp
ENST00000431044.5:c.*1358_*1369dup (SEPTIN5)	ENSP00000399685.1:n.*1358_*1369dup
ENST00000455843.5:c.*1358_*1369dup (SEPTIN5)	ENSP00000391731.1:n.*1358_*1369dup
ENST00000470814.1:n.2245_2256dup (SEPTIN5)
NM_000407.4:c.273_284dup , LRG_478t1:c.273_284dup (GP1BB)	NP_000398.1:p.Asp94_Cys95insTrpArgCysAsp
NR_037611.1:n.4013_4024dup
NR_037612.1:n.2517_2528dup
NM_000407.5:c.273_284dup (GP1BB) MANE Select	NP_000398.1:p.Asp94_Cys95insTrpArgCysAsp