Canonical Allele Identifier: CA1072524273

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414431-A-ACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCG
• gnomAD v4: 5-1414431-A-ACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35997_35998insCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAG MANE Select	ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCT...
ENST00000270349.11:c.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAG	ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCT...
NM_001044.4:c.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAG	NP_001035.1:n.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCTCCAGGC...
NM_001044.5:c.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAG MANE Select	NP_001035.1:n.1156+259_1156+260insCGCCTTCCCCGCCCTGACCCTCCAGGC...