Canonical Allele Identifier: CA1072527479

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756225158
• gnomAD v3: 5-1414507-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA
• gnomAD v4: 5-1414507-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG	NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select	ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG	ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCT...
NM_001044.4:c.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG	NP_001035.1:n.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCTCCCGGC...
NM_001044.5:c.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select	NP_001035.1:n.1156+183_1156+184insTGCCTTCCCCGCCCTGCCCCTCCCGGC...