Canonical Allele Identifier: CA2396008627
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724375_19724393delinsCTGCGGGCCCGGGCCCGCG , CM000684.2:g.19724375_19724393delinsCTGCGGGCCCGGGCCCGCG GRCh38
NC_000022.10:g.19711898_19711916delinsCTGCGGGCCCGGGCCCGCG , CM000684.1:g.19711898_19711916delinsCTGCGGGCCCGGGCCCGCG GRCh37
NC_000022.9:g.18091898_18091916delinsCTGCGGGCCCGGGCCCGCG NCBI36
NG_007974.1:g.5833_5851delinsCTGCGGGCCCGGGCCCGCG , LRG_478:g.5833_5851delinsCTGCGGGCCCGGGCCCGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.532_550delinsCTGCGGGCCCGGGCCCGCG (GP1BB) MANE Select ENSP00000383382.2:p.Leu178=
ENST00000366425.3:c.532_550delinsCTGCGGGCCCGGGCCCGCG (GP1BB) ENSP00000383382.2:p.Leu178=
ENST00000431044.5:c.*1617_*1635delinsCTGCGGGCCCGGGCCCGCG (SEPTIN5) ENSP00000399685.1:n.*1617_*1635delinsCTGCGGGCCCGGGCCCGCG
NM_000407.4:c.532_550delinsCTGCGGGCCCGGGCCCGCG , LRG_478t1:c.532_550delinsCTGCGGGCCCGGGCCCGCG (GP1BB) NP_000398.1:p.Leu178=
NR_037611.1:n.4272_4290delinsCTGCGGGCCCGGGCCCGCG
NR_037612.1:n.2776_2794delinsCTGCGGGCCCGGGCCCGCG
NM_000407.5:c.532_550delinsCTGCGGGCCCGGGCCCGCG (GP1BB) MANE Select NP_000398.1:p.Leu178=
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