Canonical Allele Identifier: CA1072527055
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414498-G-GGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA
gnomAD v4: 5-1414498-G-GGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414499_1414500insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAG , CM000667.2:g.1414499_1414500insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAG GRCh38
NC_000005.9:g.1414614_1414615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAG , CM000667.1:g.1414614_1414615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAG GRCh37
NC_000005.8:g.1467614_1467615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAG NCBI36
NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC

Transcript Alleles

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