Canonical Allele Identifier: CA1072524588
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756214354
gnomAD v3: 5-1414453-G-GCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGT
gnomAD v4: 5-1414453-G-GCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414458_1414459insAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGG , CM000667.2:g.1414458_1414459insAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGG GRCh38
NC_000005.9:g.1414573_1414574insAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGG , CM000667.1:g.1414573_1414574insAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGG GRCh37
NC_000005.8:g.1467573_1467574insAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGG NCBI36
NG_015885.1:g.35975_35976insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTG

Transcript Alleles

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