Canonical Allele Identifier: CA1072527094

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414498-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA
• gnomAD v4: 5-1414498-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414498_1414499insCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA , CM000667.2:g.1414498_1414499insCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA	GRCh38
NC_000005.9:g.1414613_1414614insCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA , CM000667.1:g.1414613_1414614insCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA	GRCh37
NC_000005.8:g.1467613_1467614insCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGAA	NCBI36
NG_015885.1:g.35930_35931insTTCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select	ENSP00000270349.9:n.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTG...
ENST00000270349.11:c.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG	ENSP00000270349.9:n.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTG...
NM_001044.4:c.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG	NP_001035.1:n.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTGCCCCTC...
NM_001044.5:c.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select	NP_001035.1:n.1156+192_1156+193insTTCAGTGCCTTCCCTTCCCTGCCCCTC...