Canonical Allele Identifier: CA1072523478
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756211409
gnomAD v3: 5-1414424-AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCG-A
gnomAD v4: 5-1414424-AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414426_1414461del , CM000667.2:g.1414426_1414461del GRCh38
NC_000005.9:g.1414541_1414576del , CM000667.1:g.1414541_1414576del GRCh37
NC_000005.8:g.1467541_1467576del NCBI36
NG_015885.1:g.35969_36004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+231_1156+266del MANE Select ENSP00000270349.9:n.1156+231_1156+266del
ENST00000270349.11:c.1156+231_1156+266del ENSP00000270349.9:n.1156+231_1156+266del
NM_001044.4:c.1156+231_1156+266del NP_001035.1:n.1156+231_1156+266del
NM_001044.5:c.1156+231_1156+266del MANE Select NP_001035.1:n.1156+231_1156+266del
Search 100 bp 5'
Search 100 bp 3'