Canonical Allele Identifier: CA1072527086

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414498-G-GCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA
• gnomAD v4: 5-1414498-G-GCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414498_1414499insCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA , CM000667.2:g.1414498_1414499insCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA	GRCh38
NC_000005.9:g.1414613_1414614insCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA , CM000667.1:g.1414613_1414614insCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA	GRCh37
NC_000005.8:g.1467613_1467614insCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA	NCBI36
NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select	ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCC...
ENST00000270349.11:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG	ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCC...
NM_001044.4:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG	NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCC...
NM_001044.5:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select	NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCC...