Canonical Allele Identifier: CA1072522173

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.36029_36030insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCC

Transcript Alleles

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