Canonical Allele Identifier: CA1139568062

Gene: SLC6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414460_1414461insAGGCATGGAAGGAAAGGCACTGGTGGGGCCTGAGGGGTCAGGGCGTGGAAAGGCAAACTGGGTGGGGGCCGGAGGGCAGGGCAGGGAAAGGCACTGTGGGGGGCCGGAGGGGCAGGGCAAGGAAGGATCTGGGTGGGGTCCTGGAGGGCAGGGCGGGAAGCACGGGTGGGGCCGGAGAGGGCGGGAGGAAGCACTGGTGGGGCCTGAGGCAGTGCGGGGAACACTGGGTGGCCGGGAGGGCGGCAGGGAAGCCCTGGGTTGGGGGCTCGGGACGGGGCAGGCGCGGAAGCAGGCGGTGGGGGGGCTGCCGGAGGGCGGGAAGGAAGGCGCGGATGGGGGCCTGGAGGCAGCGGGAAGGCACGCGTTGGGGGCGCGGCCGCCGGTGAGGGCAGGCGGGAGGCACTTTGGGTTTCTGGGGGGGGGCGGGAGGGCAGCGGGGAAGGCACGGTGGGCCTGGAGGGTCAGCGCGGGGAAGCACGGGTGGGGGCCGGGAGGGCAGGCGGGAAGGCACTGGTGGGGCCGGGAGGGACGGCGGTGAAGGCACGGGGGGGCCGGAGAAGGCTAGGCGGGAAGCACGGGGGTGGGACGGGAAGGGCAGCAGGAATGCACG , CM000667.2:g.1414460_1414461insAGGCATGGAAGGAAAGGCACTGGTGGGGCCTGAGGGGTCAGGGCGTGGAAAGGCAAACTGGGTGGGGGCCGGAGGGCAGGGCAGGGAAAGGCACTGTGGGGGGCCGGAGGGGCAGGGCAAGGAAGGATCTGGGTGGGGTCCTGGAGGGCAGGGCGGGAAGCACGGGTGGGGCCGGAGAGGGCGGGAGGAAGCACTGGTGGGGCCTGAGGCAGTGCGGGGAACACTGGGTGGCCGGGAGGGCGGCAGGGAAGCCCTGGGTTGGGGGCTCGGGACGGGGCAGGCGCGGAAGCAGGCGGTGGGGGGGCTGCCGGAGGGCGGGAAGGAAGGCGCGGATGGGGGCCTGGAGGCAGCGGGAAGGCACGCGTTGGGGGCGCGGCCGCCGGTGAGGGCAGGCGGGAGGCACTTTGGGTTTCTGGGGGGGGGCGGGAGGGCAGCGGGGAAGGCACGGTGGGCCTGGAGGGTCAGCGCGGGGAAGCACGGGTGGGGGCCGGGAGGGCAGGCGGGAAGGCACTGGTGGGGCCGGGAGGGACGGCGGTGAAGGCACGGGGGGGCCGGAGAAGGCTAGGCGGGAAGCACGGGGGTGGGACGGGAAGGGCAGCAGGAATGCACG	GRCh38
NC_000005.9:g.1414575_1414576insAGGCATGGAAGGAAAGGCACTGGTGGGGCCTGAGGGGTCAGGGCGTGGAAAGGCAAACTGGGTGGGGGCCGGAGGGCAGGGCAGGGAAAGGCACTGTGGGGGGCCGGAGGGGCAGGGCAAGGAAGGATCTGGGTGGGGTCCTGGAGGGCAGGGCGGGAAGCACGGGTGGGGCCGGAGAGGGCGGGAGGAAGCACTGGTGGGGCCTGAGGCAGTGCGGGGAACACTGGGTGGCCGGGAGGGCGGCAGGGAAGCCCTGGGTTGGGGGCTCGGGACGGGGCAGGCGCGGAAGCAGGCGGTGGGGGGGCTGCCGGAGGGCGGGAAGGAAGGCGCGGATGGGGGCCTGGAGGCAGCGGGAAGGCACGCGTTGGGGGCGCGGCCGCCGGTGAGGGCAGGCGGGAGGCACTTTGGGTTTCTGGGGGGGGGCGGGAGGGCAGCGGGGAAGGCACGGTGGGCCTGGAGGGTCAGCGCGGGGAAGCACGGGTGGGGGCCGGGAGGGCAGGCGGGAAGGCACTGGTGGGGCCGGGAGGGACGGCGGTGAAGGCACGGGGGGGCCGGAGAAGGCTAGGCGGGAAGCACGGGGGTGGGACGGGAAGGGCAGCAGGAATGCACG , CM000667.1:g.1414575_1414576insAGGCATGGAAGGAAAGGCACTGGTGGGGCCTGAGGGGTCAGGGCGTGGAAAGGCAAACTGGGTGGGGGCCGGAGGGCAGGGCAGGGAAAGGCACTGTGGGGGGCCGGAGGGGCAGGGCAAGGAAGGATCTGGGTGGGGTCCTGGAGGGCAGGGCGGGAAGCACGGGTGGGGCCGGAGAGGGCGGGAGGAAGCACTGGTGGGGCCTGAGGCAGTGCGGGGAACACTGGGTGGCCGGGAGGGCGGCAGGGAAGCCCTGGGTTGGGGGCTCGGGACGGGGCAGGCGCGGAAGCAGGCGGTGGGGGGGCTGCCGGAGGGCGGGAAGGAAGGCGCGGATGGGGGCCTGGAGGCAGCGGGAAGGCACGCGTTGGGGGCGCGGCCGCCGGTGAGGGCAGGCGGGAGGCACTTTGGGTTTCTGGGGGGGGGCGGGAGGGCAGCGGGGAAGGCACGGTGGGCCTGGAGGGTCAGCGCGGGGAAGCACGGGTGGGGGCCGGGAGGGCAGGCGGGAAGGCACTGGTGGGGCCGGGAGGGACGGCGGTGAAGGCACGGGGGGGCCGGAGAAGGCTAGGCGGGAAGCACGGGGGTGGGACGGGAAGGGCAGCAGGAATGCACG	GRCh37
NC_000005.8:g.1467575_1467576insAGGCATGGAAGGAAAGGCACTGGTGGGGCCTGAGGGGTCAGGGCGTGGAAAGGCAAACTGGGTGGGGGCCGGAGGGCAGGGCAGGGAAAGGCACTGTGGGGGGCCGGAGGGGCAGGGCAAGGAAGGATCTGGGTGGGGTCCTGGAGGGCAGGGCGGGAAGCACGGGTGGGGCCGGAGAGGGCGGGAGGAAGCACTGGTGGGGCCTGAGGCAGTGCGGGGAACACTGGGTGGCCGGGAGGGCGGCAGGGAAGCCCTGGGTTGGGGGCTCGGGACGGGGCAGGCGCGGAAGCAGGCGGTGGGGGGGCTGCCGGAGGGCGGGAAGGAAGGCGCGGATGGGGGCCTGGAGGCAGCGGGAAGGCACGCGTTGGGGGCGCGGCCGCCGGTGAGGGCAGGCGGGAGGCACTTTGGGTTTCTGGGGGGGGGCGGGAGGGCAGCGGGGAAGGCACGGTGGGCCTGGAGGGTCAGCGCGGGGAAGCACGGGTGGGGGCCGGGAGGGCAGGCGGGAAGGCACTGGTGGGGCCGGGAGGGACGGCGGTGAAGGCACGGGGGGGCCGGAGAAGGCTAGGCGGGAAGCACGGGGGTGGGACGGGAAGGGCAGCAGGAATGCACG	NCBI36
NG_015885.1:g.35970_35971insTGCATTCCTGCTGCCCTTCCCGTCCCACCCCCGTGCTTCCCGCCTAGCCTTCTCCGGCCCCCCCGTGCCTTCACCGCCGTCCCTCCCGGCCCCACCAGTGCCTTCCCGCCTGCCCTCCCGGCCCCCACCCGTGCTTCCCCGCGCTGACCCTCCAGGCCCACCGTGCCTTCCCCGCTGCCCTCCCGCCCCCCCCCAGAAACCCAAAGTGCCTCCCGCCTGCCCTCACCGGCGGCCGCGCCCCCAACGCGTGCCTTCCCGCTGCCTCCAGGCCCCCATCCGCGCCTTCCTTCCCGCCCTCCGGCAGCCCCCCCACCGCCTGCTTCCGCGCCTGCCCCGTCCCGAGCCCCCAACCCAGGGCTTCCCTGCCGCCCTCCCGGCCACCCAGTGTTCCCCGCACTGCCTCAGGCCCCACCAGTGCTTCCTCCCGCCCTCTCCGGCCCCACCCGTGCTTCCCGCCCTGCCCTCCAGGACCCCACCCAGATCCTTCCTTGCCCTGCCCCTCCGGCCCCCCACAGTGCCTTTCCCTGCCCTGCCCTCCGGCCCCCACCCAGTTTGCCTTTCCACGCCCTGACCCCTCAGGCCCCACCAGTGCCTTTCCTTCCATGCCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCCGTCCCACCCCCGTGCTTCCCGCCTAGCCTTCTCCGGCCCCCCCGTGCCTTCACCGCCGTCCCTCCCGGCCCCACCAGTGCCTTCCCGCCTGCCCTCCCGGCCCCCACCCGTGCTTCCCCGCGCTGACCCTCCAGGCCCACCGTGCCTTCCCCGCTGCCCTCCCGCCCCCCCCCAGAAACCCAAAGTGCCTCCCGCCTGCCCTCACCGGCGGCCGCGCCCCCAACGCGTGCCTTCCCGCTGCCTCCAGGCCCCCATCCGCGCCTTCCTTCCCGCCCTCCGGCAGCCCCCCCACCGCCTGCTTCCGCGCCTGCCCCGTCCCGAGCCCCCAACCCAGGGCTTCCCTGCCGCCCTCCCGGCCACCCAGTGTTCCCCGCACTGCCTCAGGCCCCACCAGTGCTTCCTCCCGCCCTCTCCGGCCCCACCCGTGCTTCCCGCCCTGCCCTCCAGGACCCCACCCAGATCCTTCCTTGCCCTGCCCCTCCGGCCCCCCACAGTGCCTTTCCCTGCCCTGCCCTCCGGCCCCCACCCAGTTTGCCTTTCCACGCCCTGACCCCTCAGGCCCCACCAGTGCCTTTCCTTCCATGCCTCG MANE Select	ENSP00000270349.9:n.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCC...
ENST00000270349.11:c.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCCGTCCCACCCCCGTGCTTCCCGCCTAGCCTTCTCCGGCCCCCCCGTGCCTTCACCGCCGTCCCTCCCGGCCCCACCAGTGCCTTCCCGCCTGCCCTCCCGGCCCCCACCCGTGCTTCCCCGCGCTGACCCTCCAGGCCCACCGTGCCTTCCCCGCTGCCCTCCCGCCCCCCCCCAGAAACCCAAAGTGCCTCCCGCCTGCCCTCACCGGCGGCCGCGCCCCCAACGCGTGCCTTCCCGCTGCCTCCAGGCCCCCATCCGCGCCTTCCTTCCCGCCCTCCGGCAGCCCCCCCACCGCCTGCTTCCGCGCCTGCCCCGTCCCGAGCCCCCAACCCAGGGCTTCCCTGCCGCCCTCCCGGCCACCCAGTGTTCCCCGCACTGCCTCAGGCCCCACCAGTGCTTCCTCCCGCCCTCTCCGGCCCCACCCGTGCTTCCCGCCCTGCCCTCCAGGACCCCACCCAGATCCTTCCTTGCCCTGCCCCTCCGGCCCCCCACAGTGCCTTTCCCTGCCCTGCCCTCCGGCCCCCACCCAGTTTGCCTTTCCACGCCCTGACCCCTCAGGCCCCACCAGTGCCTTTCCTTCCATGCCTCG	ENSP00000270349.9:n.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCC...
NM_001044.4:c.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCCGTCCCACCCCCGTGCTTCCCGCCTAGCCTTCTCCGGCCCCCCCGTGCCTTCACCGCCGTCCCTCCCGGCCCCACCAGTGCCTTCCCGCCTGCCCTCCCGGCCCCCACCCGTGCTTCCCCGCGCTGACCCTCCAGGCCCACCGTGCCTTCCCCGCTGCCCTCCCGCCCCCCCCCAGAAACCCAAAGTGCCTCCCGCCTGCCCTCACCGGCGGCCGCGCCCCCAACGCGTGCCTTCCCGCTGCCTCCAGGCCCCCATCCGCGCCTTCCTTCCCGCCCTCCGGCAGCCCCCCCACCGCCTGCTTCCGCGCCTGCCCCGTCCCGAGCCCCCAACCCAGGGCTTCCCTGCCGCCCTCCCGGCCACCCAGTGTTCCCCGCACTGCCTCAGGCCCCACCAGTGCTTCCTCCCGCCCTCTCCGGCCCCACCCGTGCTTCCCGCCCTGCCCTCCAGGACCCCACCCAGATCCTTCCTTGCCCTGCCCCTCCGGCCCCCCACAGTGCCTTTCCCTGCCCTGCCCTCCGGCCCCCACCCAGTTTGCCTTTCCACGCCCTGACCCCTCAGGCCCCACCAGTGCCTTTCCTTCCATGCCTCG	NP_001035.1:n.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCCGTCCCA...
NM_001044.5:c.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCCGTCCCACCCCCGTGCTTCCCGCCTAGCCTTCTCCGGCCCCCCCGTGCCTTCACCGCCGTCCCTCCCGGCCCCACCAGTGCCTTCCCGCCTGCCCTCCCGGCCCCCACCCGTGCTTCCCCGCGCTGACCCTCCAGGCCCACCGTGCCTTCCCCGCTGCCCTCCCGCCCCCCCCCAGAAACCCAAAGTGCCTCCCGCCTGCCCTCACCGGCGGCCGCGCCCCCAACGCGTGCCTTCCCGCTGCCTCCAGGCCCCCATCCGCGCCTTCCTTCCCGCCCTCCGGCAGCCCCCCCACCGCCTGCTTCCGCGCCTGCCCCGTCCCGAGCCCCCAACCCAGGGCTTCCCTGCCGCCCTCCCGGCCACCCAGTGTTCCCCGCACTGCCTCAGGCCCCACCAGTGCTTCCTCCCGCCCTCTCCGGCCCCACCCGTGCTTCCCGCCCTGCCCTCCAGGACCCCACCCAGATCCTTCCTTGCCCTGCCCCTCCGGCCCCCCACAGTGCCTTTCCCTGCCCTGCCCTCCGGCCCCCACCCAGTTTGCCTTTCCACGCCCTGACCCCTCAGGCCCCACCAGTGCCTTTCCTTCCATGCCTCG MANE Select	NP_001035.1:n.1156+232_1156+233insTGCATTCCTGCTGCCCTTCCCGTCCCA...