Canonical Allele Identifier: CA1024129289
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936124946
gnomAD v3: 22-19724423-GACC-G
gnomAD v4: 22-19724423-GACC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724424_19724426del , CM000684.2:g.19724424_19724426del GRCh38
NC_000022.10:g.19711947_19711949del , CM000684.1:g.19711947_19711949del GRCh37
NC_000022.9:g.18091947_18091949del NCBI36
NG_007974.1:g.5882_5884del , LRG_478:g.5882_5884del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.581_583del (GP1BB) MANE Select ENSP00000383382.2:p.Asp194_Pro195delinsAla
ENST00000366425.3:c.581_583del (GP1BB) ENSP00000383382.2:p.Asp194_Pro195delinsAla
ENST00000431044.5:c.*1666_*1668del (SEPTIN5) ENSP00000399685.1:n.*1666_*1668del
NM_000407.4:c.581_583del , LRG_478t1:c.581_583del (GP1BB) NP_000398.1:p.Asp194_Pro195delinsAla
NR_037611.1:n.4321_4323del
NR_037612.1:n.2825_2827del
NM_000407.5:c.581_583del (GP1BB) MANE Select NP_000398.1:p.Asp194_Pro195delinsAla
Search 100 bp 5'
Search 100 bp 3'