Canonical Allele Identifier: CA638352879
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1338557784

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724379_19724400del , CM000684.2:g.19724379_19724400del GRCh38
NC_000022.10:g.19711902_19711923del , CM000684.1:g.19711902_19711923del GRCh37
NC_000022.9:g.18091902_18091923del NCBI36
NG_007974.1:g.5837_5858del , LRG_478:g.5837_5858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.536_557del (GP1BB) MANE Select ENSP00000383382.2:p.Arg179ProfsTer7
ENST00000366425.3:c.536_557del (GP1BB) ENSP00000383382.2:p.Arg179ProfsTer7
ENST00000431044.5:c.*1621_*1642del (SEPTIN5) ENSP00000399685.1:n.*1621_*1642del
NM_000407.4:c.536_557del , LRG_478t1:c.536_557del (GP1BB) NP_000398.1:p.Arg179ProfsTer7
NR_037611.1:n.4276_4297del
NR_037612.1:n.2780_2801del
NM_000407.5:c.536_557del (GP1BB) MANE Select NP_000398.1:p.Arg179ProfsTer7