Canonical Allele Identifier: CA1072524262

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGGCAGGGTGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGGCAGGGTGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGGCAGGGTGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGGCAGGGTGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGGCAGGGTGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35997_35998insCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCACCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

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