Canonical Allele Identifier: CA1072527113

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756223032
• gnomAD v3: 5-1414498-G-GAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA
• gnomAD v4: 5-1414498-G-GAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414498_1414499insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA , CM000667.2:g.1414498_1414499insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA	GRCh38
NC_000005.9:g.1414613_1414614insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA , CM000667.1:g.1414613_1414614insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA	GRCh37
NC_000005.8:g.1467613_1467614insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA	NCBI36
NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT

Transcript Alleles

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