Canonical Allele Identifier: CA2695230408

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724313_19724316delinsAG , CM000684.2:g.19724313_19724316delinsAG	GRCh38
NC_000022.10:g.19711836_19711839delinsAG , CM000684.1:g.19711836_19711839delinsAG	GRCh37
NC_000022.9:g.18091836_18091839delinsAG	NCBI36
NG_007974.1:g.5771_5774delinsAG , LRG_478:g.5771_5774delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.470_473delinsAG (GP1BB) MANE Select	ENSP00000383382.2:p.Leu157GlnfsTer?
ENST00000366425.3:c.470_473delinsAG (GP1BB)	ENSP00000383382.2:p.Leu157GlnfsTer?
ENST00000431044.5:c.*1555_*1558delinsAG (SEPTIN5)	ENSP00000399685.1:n.*1555_*1558delinsAG
NM_000407.4:c.470_473delinsAG , LRG_478t1:c.470_473delinsAG (GP1BB)	NP_000398.1:p.Leu157GlnfsTer?
NR_037611.1:n.4210_4213delinsAG
NR_037612.1:n.2714_2717delinsAG
NM_000407.5:c.470_473delinsAG (GP1BB) MANE Select	NP_000398.1:p.Leu157GlnfsTer?