Canonical Allele Identifier: CA1072525990

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCG
• gnomAD v4: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCGGG	GRCh38
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCGGG	GRCh37
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGCCGGG	NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC MANE Select	ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTC...
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC	ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTC...
NM_001044.4:c.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC	NP_001035.1:n.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTCCCTGCC...
NM_001044.5:c.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC MANE Select	NP_001035.1:n.1156+206_1156+207insCGGCCCCCACCCAGCGCCTTCCCTGCC...