Canonical Allele Identifier: CA1072527678
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560913105
gnomAD v3: 5-1414520-A-AGGGCAGAGAAGGCACTGGGTGGGGGGCCG
gnomAD v4: 5-1414520-A-AGGGCAGAGAAGGCACTGGGTGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414522_1414523insGCAGAGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414522_1414523insGCAGAGAAGGCACTGGGTGGGGGGCCGGG GRCh38
NC_000005.9:g.1414637_1414638insGCAGAGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414637_1414638insGCAGAGAAGGCACTGGGTGGGGGGCCGGG GRCh37
NC_000005.8:g.1467637_1467638insGCAGAGAAGGCACTGGGTGGGGGGCCGGG NCBI36
NG_015885.1:g.35908_35909insCGGCCCCCCACCCAGTGCCTTCTCTGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCTCTGCCC MANE Select ENSP00000270349.9:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTT...
ENST00000270349.11:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCTCTGCCC ENSP00000270349.9:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTT...
NM_001044.4:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCTCTGCCC NP_001035.1:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCTCTGC...
NM_001044.5:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCTCTGCCC MANE Select NP_001035.1:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCTCTGC...
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