Canonical Allele Identifier: CA1072522175

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414399-G-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGT
• gnomAD v4: 5-1414399-G-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.36029_36030insACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC MANE Select	ENSP00000270349.9:n.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCT...
ENST00000270349.11:c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC	ENSP00000270349.9:n.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCT...
NM_001044.4:c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC	NP_001035.1:n.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCT...
NM_001044.5:c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC MANE Select	NP_001035.1:n.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCT...