Canonical Allele Identifier: CA1072525965

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGG	GRCh38
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGG	GRCh37
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGG	NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

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