Canonical Allele Identifier: CA1072525902

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414482-C-CCGGGAGGAGCAGGGCGGGGAAGGCG
• gnomAD v4: 5-1414482-C-CCGGGAGGAGCAGGGCGGGGAAGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGAGCAGGGCGGGGAAGGCGC , CM000667.2:g.1414483_1414484insGGGAGGAGCAGGGCGGGGAAGGCGC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGAGCAGGGCGGGGAAGGCGC , CM000667.1:g.1414598_1414599insGGGAGGAGCAGGGCGGGGAAGGCGC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGAGCAGGGCGGGGAAGGCGC	NCBI36
NG_015885.1:g.35946_35947insCGCCTTCCCCGCCCTGCTCCTCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCTCCCG MANE Select	ENSP00000270349.9:n.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCT...
ENST00000270349.11:c.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCTCCCG	ENSP00000270349.9:n.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCT...
NM_001044.4:c.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCTCCCG	NP_001035.1:n.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCTCCCG
NM_001044.5:c.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCTCCCG MANE Select	NP_001035.1:n.1156+208_1156+209insCGCCTTCCCCGCCCTGCTCCTCCCG