Canonical Allele Identifier: CA1072527612

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1473728652
• gnomAD v3: 5-1414514-G-GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGA
• gnomAD v4: 5-1414514-G-GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGAGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGAGGGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGAGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGAGGGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCCCTGGGTGGGGGGCCGGGAGGGG	NCBI36
NG_015885.1:g.35914_35915insTCCCGGCCCCCCACCCAGGGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC MANE Select	ENSP00000270349.9:n.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGC...
ENST00000270349.11:c.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC	ENSP00000270349.9:n.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGC...
NM_001044.4:c.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC	NP_001035.1:n.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGCCTTCCC...
NM_001044.5:c.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC MANE Select	NP_001035.1:n.1156+176_1156+177insTCCCGGCCCCCCACCCAGGGCCTTCCC...