Canonical Allele Identifier: CA751435190
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1233061164
gnomAD v3: 22-19724377-G-GCGGGCC
gnomAD v4: 22-19724377-G-GCGGGCC
MyVariant Identifiers: chr22:g.19711900_19711901insCGGGCC (hg19) chr22:g.19724377_19724378insCGGGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724386_19724391dup , CM000684.2:g.19724386_19724391dup GRCh38
NC_000022.10:g.19711909_19711914dup , CM000684.1:g.19711909_19711914dup GRCh37
NC_000022.9:g.18091909_18091914dup NCBI36
NG_007974.1:g.5844_5849dup , LRG_478:g.5844_5849dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.543_548dup (GP1BB) MANE Select ENSP00000383382.2:p.Arg183_Ala184insAlaArg
ENST00000366425.3:c.543_548dup (GP1BB) ENSP00000383382.2:p.Arg183_Ala184insAlaArg
ENST00000431044.5:c.*1628_*1633dup (SEPTIN5) ENSP00000399685.1:n.*1628_*1633dup
NM_000407.4:c.543_548dup , LRG_478t1:c.543_548dup (GP1BB) NP_000398.1:p.Arg183_Ala184insAlaArg
NR_037611.1:n.4283_4288dup
NR_037612.1:n.2787_2792dup
NM_000407.5:c.543_548dup (GP1BB) MANE Select NP_000398.1:p.Arg183_Ala184insAlaArg
Search 100 bp 5'
Search 100 bp 3'