Canonical Allele Identifier: CA1072522092

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.36029_36030insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCC

Transcript Alleles

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