Canonical Allele Identifier: CA638352880
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1233061164
gnomAD v2: 22-19711900-GCGGGCC-G
gnomAD v3: 22-19724377-GCGGGCC-G
gnomAD v4: 22-19724377-GCGGGCC-G
MyVariant Identifiers: chr22:g.19711901_19711906del (hg19) chr22:g.19724378_19724383del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724386_19724391del , CM000684.2:g.19724386_19724391del GRCh38
NC_000022.10:g.19711909_19711914del , CM000684.1:g.19711909_19711914del GRCh37
NC_000022.9:g.18091909_18091914del NCBI36
NG_007974.1:g.5844_5849del , LRG_478:g.5844_5849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.543_548del (GP1BB) MANE Select ENSP00000383382.2:p.Ala182_Arg183del
ENST00000366425.3:c.543_548del (GP1BB) ENSP00000383382.2:p.Ala182_Arg183del
ENST00000431044.5:c.*1628_*1633del (SEPTIN5) ENSP00000399685.1:n.*1628_*1633del
NM_000407.4:c.543_548del , LRG_478t1:c.543_548del (GP1BB) NP_000398.1:p.Ala182_Arg183del
NR_037611.1:n.4283_4288del
NR_037612.1:n.2787_2792del
NM_000407.5:c.543_548del (GP1BB) MANE Select NP_000398.1:p.Ala182_Arg183del
Search 100 bp 5'
Search 100 bp 3'