Canonical Allele Identifier: CA915952576
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 627082
ClinVar RCV Id: RCV000851807
dbSNP Id: rs1601249021
gnomAD v4: 22-19724339-T-TTGCTGCTGGTGC
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724348_19724359dup , CM000684.2:g.19724348_19724359dup GRCh38
NC_000022.10:g.19711871_19711882dup , CM000684.1:g.19711871_19711882dup GRCh37
NC_000022.9:g.18091871_18091882dup NCBI36
NG_007974.1:g.5806_5817dup , LRG_478:g.5806_5817dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.505_516dup (GP1BB) MANE Select ENSP00000383382.2:p.Leu172_Cys173insValLeuLeuLeu
ENST00000366425.3:c.505_516dup (GP1BB) ENSP00000383382.2:p.Leu172_Cys173insValLeuLeuLeu
ENST00000431044.5:c.*1590_*1601dup (SEPTIN5) ENSP00000399685.1:n.*1590_*1601dup
NM_000407.4:c.505_516dup , LRG_478t1:c.505_516dup (GP1BB) NP_000398.1:p.Leu172_Cys173insValLeuLeuLeu
NR_037611.1:n.4245_4256dup
NR_037612.1:n.2749_2760dup
NM_000407.5:c.505_516dup (GP1BB) MANE Select NP_000398.1:p.Leu172_Cys173insValLeuLeuLeu
Search 100 bp 5'
Search 100 bp 3'