Canonical Allele Identifier: CA1072527372

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414507_1414508insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA , CM000667.2:g.1414507_1414508insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA	GRCh38
NC_000005.9:g.1414622_1414623insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA , CM000667.1:g.1414622_1414623insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA	GRCh37
NC_000005.8:g.1467622_1467623insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA	NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC

Transcript Alleles

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