Canonical Allele Identifier: CA322079952
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724158del , CM000684.2:g.19724158del GRCh38
NC_000022.10:g.19711681del , CM000684.1:g.19711681del GRCh37
NC_000022.9:g.18091681del NCBI36
NG_007974.1:g.5616del , LRG_478:g.5616del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.315del (GP1BB) MANE Select ENSP00000383382.2:p.Gly106AlafsTer?
ENST00000366425.3:c.315del (GP1BB) ENSP00000383382.2:p.Gly106AlafsTer?
ENST00000431044.5:c.*1400del (SEPTIN5) ENSP00000399685.1:n.*1400del
ENST00000455843.5:c.*1400del (SEPTIN5) ENSP00000391731.1:n.*1400del
ENST00000470814.1:n.2287del (SEPTIN5)
NM_000407.4:c.315del , LRG_478t1:c.315del (GP1BB) NP_000398.1:p.Gly106AlafsTer?
NR_037611.1:n.4055del
NR_037612.1:n.2559del
NM_000407.5:c.315del (GP1BB) MANE Select NP_000398.1:p.Gly106AlafsTer?
Search 100 bp 5'
Search 100 bp 3'