Canonical Allele Identifier: CA2396008326
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723803_19723804delinsTC , CM000684.2:g.19723803_19723804delinsTC GRCh38
NC_000022.10:g.19711326_19711327delinsTC , CM000684.1:g.19711326_19711327delinsTC GRCh37
NC_000022.9:g.18091326_18091327delinsTC NCBI36
NG_007974.1:g.5261_5262delinsTC , LRG_478:g.5261_5262delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.11-51_11-50delinsTC (GP1BB) MANE Select ENSP00000383382.2:n.11-51_11-50delinsTC
ENST00000366425.3:c.11-51_11-50delinsTC (GP1BB) ENSP00000383382.2:n.11-51_11-50delinsTC
ENST00000431044.5:c.*1096-51_*1096-50delinsTC (SEPTIN5) ENSP00000399685.1:n.*1096-51_*1096-50delinsTC
ENST00000455843.5:c.*1096-51_*1096-50delinsTC (SEPTIN5) ENSP00000391731.1:n.*1096-51_*1096-50delinsTC
ENST00000470814.1:n.1983-51_1983-50delinsTC (SEPTIN5)
NM_000407.4:c.11-51_11-50delinsTC , LRG_478t1:c.11-51_11-50delinsTC (GP1BB) NP_000398.1:n.11-51_11-50delinsTC
NR_037611.1:n.3751-51_3751-50delinsTC
NR_037612.1:n.2255-51_2255-50delinsTC
NM_000407.5:c.11-51_11-50delinsTC (GP1BB) MANE Select NP_000398.1:n.11-51_11-50delinsTC