Canonical Allele Identifier: CA2847928526

Gene: GNB1L

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19797353_19797354insCCACCCCGGGGGGGGGGGGGGG , CM000684.2:g.19797353_19797354insCCACCCCGGGGGGGGGGGGGGG	GRCh38
NC_000022.10:g.19784876_19784877insCCACCCCGGGGGGGGGGGGGGG , CM000684.1:g.19784876_19784877insCCACCCCGGGGGGGGGGGGGGG	GRCh37
NC_000022.9:g.18164876_18164877insCCACCCCGGGGGGGGGGGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329517.11:c.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC MANE Select	ENSP00000331313.6:n.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGG...
ENST00000329517.10:c.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC	ENSP00000331313.6:n.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGG...
ENST00000403325.5:c.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC	ENSP00000385154.1:n.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGG...
ENST00000405009.5:c.630+4750_630+4751insCCCCCCCCCCCCCCGGGGTGGC	ENSP00000384626.1:n.630+4750_630+4751insCCCCCCCCCCCCCCGGGGTGG...
ENST00000460402.5:n.700+4648_700+4649insCCCCCCCCCCCCCCGGGGTGGC
NM_053004.2:c.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC	NP_443730.1:n.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC
NM_053004.3:c.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC MANE Select	NP_443730.1:n.732+4648_732+4649insCCCCCCCCCCCCCCGGGGTGGC