Canonical Allele Identifier: CA1072513842
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1443587-C-CGAGA
gnomAD v4: 5-1443587-C-CGAGA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443587_1443588insGAGA , CM000667.2:g.1443587_1443588insGAGA GRCh38
NC_000005.9:g.1443702_1443703insGAGA , CM000667.1:g.1443702_1443703insGAGA GRCh37
NC_000005.8:g.1496702_1496703insGAGA NCBI36
NG_015885.1:g.6841_6842insTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-346_-45-345insTCTC MANE Select ENSP00000270349.9:n.-45-346_-45-345insTCTC
ENST00000270349.11:c.-45-346_-45-345insTCTC ENSP00000270349.9:n.-45-346_-45-345insTCTC
NM_001044.4:c.-45-346_-45-345insTCTC NP_001035.1:n.-45-346_-45-345insTCTC
NM_001044.5:c.-45-346_-45-345insTCTC MANE Select NP_001035.1:n.-45-346_-45-345insTCTC
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