Canonical Allele Identifier: CA1072526982

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC	GRCh38
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC	GRCh37
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC	NCBI36
NG_015885.1:g.35930_35931insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC

Transcript Alleles

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