Canonical Allele Identifier: CA2590929216

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414453-G-GCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGT
• gnomAD v4: 5-1414453-G-GCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414459_1414460insAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC	GRCh38
NC_000005.9:g.1414574_1414575insAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC	GRCh37
NC_000005.8:g.1467574_1467575insAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC	NCBI36
NG_015885.1:g.35975_35976insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTG MANE Select	ENSP00000270349.9:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCA...
ENST00000270349.11:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTG	ENSP00000270349.9:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCA...
NM_001044.4:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTG	NP_001035.1:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCT...
NM_001044.5:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTG MANE Select	NP_001035.1:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCT...