Canonical Allele Identifier: CA1024134903

Gene: GNB1L

Linked Data

• gnomAD v3: 22-19797402-A-AAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG
• gnomAD v4: 22-19797402-A-AAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19797402_19797403insAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG , CM000684.2:g.19797402_19797403insAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG	GRCh38
NC_000022.10:g.19784925_19784926insAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG , CM000684.1:g.19784925_19784926insAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG	GRCh37
NC_000022.9:g.18164925_18164926insAATTCCAAATGTGGCCTCAGGGAATGTCATTGTGTTAAGTCCACTCCTGCCTCTAAGAGGCAAAGAAGTAATAAAAATCAATCCTAAGCAAAGCGGGGGCCGTGCAGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000329517.11:c.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT MANE Select	ENSP00000331313.6:n.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGC...
ENST00000329517.10:c.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT	ENSP00000331313.6:n.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGC...
ENST00000403325.5:c.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT	ENSP00000385154.1:n.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGC...
ENST00000405009.5:c.630+4700_630+4701insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT	ENSP00000384626.1:n.630+4700_630+4701insCCTGCACGGCCCCCGCTTTGC...
ENST00000460402.5:n.700+4598_700+4599insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT
NM_053004.2:c.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT	NP_443730.1:n.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGA...
NM_053004.3:c.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGATTGATTTTTATTACTTCTTTGCCTCTTAGAGGCAGGAGTGGACTTAACACAATGACATTCCCTGAGGCCACATTTGGAATT MANE Select	NP_443730.1:n.732+4598_732+4599insCCTGCACGGCCCCCGCTTTGCTTAGGA...