Canonical Allele Identifier: CA1072522684

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414415-G-GGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT
• gnomAD v4: 5-1414415-G-GGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414415_1414416insGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT , CM000667.2:g.1414415_1414416insGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT	GRCh38
NC_000005.9:g.1414530_1414531insGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT , CM000667.1:g.1414530_1414531insGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT	GRCh37
NC_000005.8:g.1467530_1467531insGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGT	NCBI36
NG_015885.1:g.36013_36014insACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCC MANE Select	ENSP00000270349.9:n.1156+275_1156+276insACCCTCCAGGCCCCCCACCCA...
ENST00000270349.11:c.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCC	ENSP00000270349.9:n.1156+275_1156+276insACCCTCCAGGCCCCCCACCCA...
NM_001044.4:c.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCC	NP_001035.1:n.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGTGCCT...
NM_001044.5:c.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCC MANE Select	NP_001035.1:n.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGTGCCT...