Canonical Allele Identifier: CA2590929334

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insAGGAGGGGCAGGGCGGGGAAGGCAC , CM000667.2:g.1414483_1414484insAGGAGGGGCAGGGCGGGGAAGGCAC	GRCh38
NC_000005.9:g.1414598_1414599insAGGAGGGGCAGGGCGGGGAAGGCAC , CM000667.1:g.1414598_1414599insAGGAGGGGCAGGGCGGGGAAGGCAC	GRCh37
NC_000005.8:g.1467598_1467599insAGGAGGGGCAGGGCGGGGAAGGCAC	NCBI36
NG_015885.1:g.35946_35947insTGCCTTCCCCGCCCTGCCCCTCCTG

Transcript Alleles

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