Canonical Allele Identifier: CA1072530146
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1428231-CT-C
gnomAD v4: 5-1428231-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1428233del , CM000667.2:g.1428233del GRCh38
NC_000005.9:g.1428348del , CM000667.1:g.1428348del GRCh37
NC_000005.8:g.1481348del NCBI36
NG_015885.1:g.22197del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4232del MANE Select ENSP00000270349.9:n.653+4232del
ENST00000270349.11:c.653+4232del ENSP00000270349.9:n.653+4232del
NM_001044.4:c.653+4232del NP_001035.1:n.653+4232del
NM_001044.5:c.653+4232del MANE Select NP_001035.1:n.653+4232del
Search 100 bp 5'
Search 100 bp 3'