Canonical Allele Identifier: CA1072527477

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414507-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA
• gnomAD v4: 5-1414507-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG	NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

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