Canonical Allele Identifier: CA2590929619

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414518_1414519insGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG	GRCh38
NC_000005.9:g.1414633_1414634insGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414633_1414634insGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG	GRCh37
NC_000005.8:g.1467633_1467634insGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG	NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAG

Transcript Alleles

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