Canonical Allele Identifier: CA2396008284
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723733G= , CM000684.2:g.19723733G= GRCh38
NC_000022.10:g.19711256G= , CM000684.1:g.19711256G= GRCh37
NC_000022.9:g.18091256G= NCBI36
NG_007974.1:g.5191G= , LRG_478:g.5191G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.11-121G= (GP1BB) MANE Select ENSP00000383382.2:n.11-121G=
ENST00000366425.3:c.11-121G= (GP1BB) ENSP00000383382.2:n.11-121G=
ENST00000431044.5:c.*1096-121G= (SEPTIN5) ENSP00000399685.1:n.*1096-121G=
ENST00000455843.5:c.*1096-121G= (SEPTIN5) ENSP00000391731.1:n.*1096-121G=
ENST00000470814.1:n.1983-121G= (SEPTIN5)
NM_000407.4:c.11-121G= , LRG_478t1:c.11-121G= (GP1BB) NP_000398.1:n.11-121G=
NR_037611.1:n.3751-121G=
NR_037612.1:n.2255-121G=
NM_000407.5:c.11-121G= (GP1BB) MANE Select NP_000398.1:n.11-121G=
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