Canonical Allele Identifier: CA1072527359

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756224748
• gnomAD v3: 5-1414507-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA
• gnomAD v4: 5-1414507-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414507_1414508insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA , CM000667.2:g.1414507_1414508insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA	GRCh38
NC_000005.9:g.1414622_1414623insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA , CM000667.1:g.1414622_1414623insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA	GRCh37
NC_000005.8:g.1467622_1467623insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA	NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC

Transcript Alleles

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