Canonical Allele Identifier: CA1072524582
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414453-G-GCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGT
gnomAD v4: 5-1414453-G-GCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGC , CM000667.2:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGC GRCh38
NC_000005.9:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGC , CM000667.1:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGC GRCh37
NC_000005.8:g.1467574_1467575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGC NCBI36
NG_015885.1:g.35975_35976insACCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTG

Transcript Alleles

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