Canonical Allele Identifier: CA1072527027

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756223846
• gnomAD v3: 5-1414498-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA
• gnomAD v4: 5-1414498-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG	NCBI36
NG_015885.1:g.35930_35931insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

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