Canonical Allele Identifier: CA2655305574

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724457-A-AGTCCTGAGGAGAGAACCGGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724477_19724498dup , CM000684.2:g.19724477_19724498dup	GRCh38
NC_000022.10:g.19712000_19712021dup , CM000684.1:g.19712000_19712021dup	GRCh37
NC_000022.9:g.18092000_18092021dup	NCBI36
NG_007974.1:g.5935_5956dup , LRG_478:g.5935_5956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*13_*34dup (GP1BB) MANE Select	ENSP00000383382.2:n.*13_*34dup
ENST00000366425.3:c.*13_*34dup (GP1BB)	ENSP00000383382.2:n.*13_*34dup
ENST00000431044.5:c.*1719_*1740dup (SEPTIN5)	ENSP00000399685.1:n.*1719_*1740dup
NM_000407.4:c.*13_*34dup , LRG_478t1:c.*13_*34dup (GP1BB)	NP_000398.1:n.*13_*34dup
NR_037611.1:n.4374_4395dup
NR_037612.1:n.2878_2899dup
NM_000407.5:c.*13_*34dup (GP1BB) MANE Select	NP_000398.1:n.*13_*34dup