Canonical Allele Identifier: CA2655305568

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724447-G-GGAACCGACGAGTCCTGAGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724454_19724475dup , CM000684.2:g.19724454_19724475dup	GRCh38
NC_000022.10:g.19711977_19711998dup , CM000684.1:g.19711977_19711998dup	GRCh37
NC_000022.9:g.18091977_18091998dup	NCBI36
NG_007974.1:g.5912_5933dup , LRG_478:g.5912_5933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.611_*11dup (GP1BB) MANE Select	ENSP00000383382.2:n.611_*11dup
ENST00000366425.3:c.611_*11dup (GP1BB)	ENSP00000383382.2:n.611_*11dup
ENST00000431044.5:c.*1696_*1717dup (SEPTIN5)	ENSP00000399685.1:n.*1696_*1717dup
NM_000407.4:c.611_*11dup , LRG_478t1:c.611_*11dup (GP1BB)	NP_000398.1:n.611_*11dup
NR_037611.1:n.4351_4372dup
NR_037612.1:n.2855_2876dup
NM_000407.5:c.611_*11dup (GP1BB) MANE Select	NP_000398.1:n.611_*11dup