Canonical Allele Identifier: CA2577646878

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724464_19724465del , CM000684.2:g.19724464_19724465del	GRCh38
NC_000022.10:g.19711987_19711988del , CM000684.1:g.19711987_19711988del	GRCh37
NC_000022.9:g.18091987_18091988del	NCBI36
NG_007974.1:g.5922_5923del , LRG_478:g.5922_5923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.621_*1del (GP1BB) MANE Select	ENSP00000383382.2:n.[c.621_*1del;Ter207TrpextTer?]
ENST00000366425.3:c.621_*1del (GP1BB)	ENSP00000383382.2:n.[c.621_*1del;Ter207TrpextTer?]
ENST00000431044.5:c.*1706_*1707del (SEPTIN5)	ENSP00000399685.1:n.*1706_*1707del
NM_000407.4:c.621_*1del , LRG_478t1:c.621_*1del (GP1BB)	NP_000398.1:n.[c.621_*1del;Ter207TrpextTer?]
NR_037611.1:n.4361_4362del
NR_037612.1:n.2865_2866del
NM_000407.5:c.621_*1del (GP1BB) MANE Select	NP_000398.1:n.[c.621_*1del;Ter207TrpextTer?]