Canonical Allele Identifier: CA1072526504

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414499_1414500insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG , CM000667.2:g.1414499_1414500insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG	GRCh38
NC_000005.9:g.1414614_1414615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG , CM000667.1:g.1414614_1414615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG	GRCh37
NC_000005.8:g.1467614_1467615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG	NCBI36
NG_015885.1:g.35937_35938insCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTG

Transcript Alleles

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