Canonical Allele Identifier: CA322080095
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1001152173
gnomAD v3: 22-19724339-T-TTGC
gnomAD v4: 22-19724339-T-TTGC
MyVariant Identifiers: chr22:g.19711862_19711863insTGC (hg19) chr22:g.19724339_19724340insTGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724345_19724347dup , CM000684.2:g.19724345_19724347dup GRCh38
NC_000022.10:g.19711868_19711870dup , CM000684.1:g.19711868_19711870dup GRCh37
NC_000022.9:g.18091868_18091870dup NCBI36
NG_007974.1:g.5803_5805dup , LRG_478:g.5803_5805dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.502_504dup (GP1BB) MANE Select ENSP00000383382.2:p.Leu168_Val169insLeu
ENST00000366425.3:c.502_504dup (GP1BB) ENSP00000383382.2:p.Leu168_Val169insLeu
ENST00000431044.5:c.*1587_*1589dup (SEPTIN5) ENSP00000399685.1:n.*1587_*1589dup
NM_000407.4:c.502_504dup , LRG_478t1:c.502_504dup (GP1BB) NP_000398.1:p.Leu168_Val169insLeu
NR_037611.1:n.4242_4244dup
NR_037612.1:n.2746_2748dup
NM_000407.5:c.502_504dup (GP1BB) MANE Select NP_000398.1:p.Leu168_Val169insLeu
Search 100 bp 5'
Search 100 bp 3'