Canonical Allele Identifier: CA2580615245
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572096
ClinVar RCV Id: RCV003313834
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724379_19724388del , CM000684.2:g.19724379_19724388del GRCh38
NC_000022.10:g.19711902_19711911del , CM000684.1:g.19711902_19711911del GRCh37
NC_000022.9:g.18091902_18091911del NCBI36
NG_007974.1:g.5837_5846del , LRG_478:g.5837_5846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.536_545del (GP1BB) MANE Select ENSP00000383382.2:p.Arg179ProfsTer11
ENST00000366425.3:c.536_545del (GP1BB) ENSP00000383382.2:p.Arg179ProfsTer11
ENST00000431044.5:c.*1621_*1630del (SEPTIN5) ENSP00000399685.1:n.*1621_*1630del
NM_000407.4:c.536_545del , LRG_478t1:c.536_545del (GP1BB) NP_000398.1:p.Arg179ProfsTer11
NR_037611.1:n.4276_4285del
NR_037612.1:n.2780_2789del
NM_000407.5:c.536_545del (GP1BB) MANE Select NP_000398.1:p.Arg179ProfsTer11
Search 100 bp 5'
Search 100 bp 3'