Canonical Allele Identifier: CA2655305525
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

gnomAD v4: 22-19724387-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724390del , CM000684.2:g.19724390del GRCh38
NC_000022.10:g.19711913del , CM000684.1:g.19711913del GRCh37
NC_000022.9:g.18091913del NCBI36
NG_007974.1:g.5848del , LRG_478:g.5848del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.547del (GP1BB) MANE Select ENSP00000383382.2:p.Arg183AlafsTer10
ENST00000366425.3:c.547del (GP1BB) ENSP00000383382.2:p.Arg183AlafsTer10
ENST00000431044.5:c.*1632del (SEPTIN5) ENSP00000399685.1:n.*1632del
NM_000407.4:c.547del , LRG_478t1:c.547del (GP1BB) NP_000398.1:p.Arg183AlafsTer10
NR_037611.1:n.4287del
NR_037612.1:n.2791del
NM_000407.5:c.547del (GP1BB) MANE Select NP_000398.1:p.Arg183AlafsTer10
Search 100 bp 5'
Search 100 bp 3'