Canonical Allele Identifier: CA2655304989

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19723829-GCTTACTGCGGCGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723830_19723843del , CM000684.2:g.19723830_19723843del	GRCh38
NC_000022.10:g.19711353_19711366del , CM000684.1:g.19711353_19711366del	GRCh37
NC_000022.9:g.18091353_18091366del	NCBI36
NG_007974.1:g.5288_5301del , LRG_478:g.5288_5301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-24_11-11del (GP1BB) MANE Select	ENSP00000383382.2:n.11-24_11-11del
ENST00000366425.3:c.11-24_11-11del (GP1BB)	ENSP00000383382.2:n.11-24_11-11del
ENST00000431044.5:c.*1096-24_*1096-11del (SEPTIN5)	ENSP00000399685.1:n.*1096-24_*1096-11del
ENST00000455843.5:c.*1096-24_*1096-11del (SEPTIN5)	ENSP00000391731.1:n.*1096-24_*1096-11del
ENST00000470814.1:n.1983-24_1983-11del (SEPTIN5)
NM_000407.4:c.11-24_11-11del , LRG_478t1:c.11-24_11-11del (GP1BB)	NP_000398.1:n.11-24_11-11del
NR_037611.1:n.3751-24_3751-11del
NR_037612.1:n.2255-24_2255-11del
NM_000407.5:c.11-24_11-11del (GP1BB) MANE Select	NP_000398.1:n.11-24_11-11del