Canonical Allele Identifier: CA1072525586
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414469-G-GCTGGGTGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCA
gnomAD v4: 5-1414469-G-GCTGGGTGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414480_1414481insCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414480_1414481insCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGG GRCh38
NC_000005.9:g.1414595_1414596insCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414595_1414596insCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGG GRCh37
NC_000005.8:g.1467595_1467596insCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGG NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCTGCCCTGACCCTCCCGGCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCCGGCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCCGGCCCCCACCCAG ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCCGGCCCCCACCCAG NP_001035.1:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCCGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCCGGCCCCCACCCAG MANE Select NP_001035.1:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCCGGC...
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