Canonical Allele Identifier: CA1072526620

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414491-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG
• gnomAD v4: 5-1414491-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414491_1414492insGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG , CM000667.2:g.1414491_1414492insGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG	GRCh38
NC_000005.9:g.1414606_1414607insGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG , CM000667.1:g.1414606_1414607insGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG	GRCh37
NC_000005.8:g.1467606_1467607insGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG	NCBI36
NG_015885.1:g.35937_35938insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select	ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCA...
ENST00000270349.11:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCC	ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCA...
NM_001044.4:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCC	NP_001035.1:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCT...
NM_001044.5:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select	NP_001035.1:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCT...