Canonical Allele Identifier: CA1024129272
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936123544
gnomAD v3: 22-19724386-GGCCCGC-G
gnomAD v4: 22-19724386-GGCCCGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724389_19724394del , CM000684.2:g.19724389_19724394del GRCh38
NC_000022.10:g.19711912_19711917del , CM000684.1:g.19711912_19711917del GRCh37
NC_000022.9:g.18091912_18091917del NCBI36
NG_007974.1:g.5847_5852del , LRG_478:g.5847_5852del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.546_551del (GP1BB) MANE Select ENSP00000383382.2:p.Arg183_Ala184del
ENST00000366425.3:c.546_551del (GP1BB) ENSP00000383382.2:p.Arg183_Ala184del
ENST00000431044.5:c.*1631_*1636del (SEPTIN5) ENSP00000399685.1:n.*1631_*1636del
NM_000407.4:c.546_551del , LRG_478t1:c.546_551del (GP1BB) NP_000398.1:p.Arg183_Ala184del
NR_037611.1:n.4286_4291del
NR_037612.1:n.2790_2795del
NM_000407.5:c.546_551del (GP1BB) MANE Select NP_000398.1:p.Arg183_Ala184del
Search 100 bp 5'
Search 100 bp 3'