Canonical Allele Identifier: CA2396008646
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936124073
gnomAD v3: 22-19724395-T-TCGCGCC
gnomAD v4: 22-19724395-T-TCGCGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724396_19724401dup , CM000684.2:g.19724396_19724401dup GRCh38
NC_000022.10:g.19711919_19711924dup , CM000684.1:g.19711919_19711924dup GRCh37
NC_000022.9:g.18091919_18091924dup NCBI36
NG_007974.1:g.5854_5859dup , LRG_478:g.5854_5859dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.553_558dup (GP1BB) MANE Select ENSP00000383382.2:p.Ala186_Ala187insArgAla
ENST00000366425.3:c.553_558dup (GP1BB) ENSP00000383382.2:p.Ala186_Ala187insArgAla
ENST00000431044.5:c.*1638_*1643dup (SEPTIN5) ENSP00000399685.1:n.*1638_*1643dup
NM_000407.4:c.553_558dup , LRG_478t1:c.553_558dup (GP1BB) NP_000398.1:p.Ala186_Ala187insArgAla
NR_037611.1:n.4293_4298dup
NR_037612.1:n.2797_2802dup
NM_000407.5:c.553_558dup (GP1BB) MANE Select NP_000398.1:p.Ala186_Ala187insArgAla
Search 100 bp 5'
Search 100 bp 3'