Canonical Allele Identifier: CA804832296
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1293319578
gnomAD v3: 5-1423933-ATGGT-A
gnomAD v4: 5-1423933-ATGGT-A
MyVariant Identifiers: chr5:g.1424049_1424052del (hg19) chr5:g.1423934_1423937del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423934_1423937del , CM000667.2:g.1423934_1423937del GRCh38
NC_000005.9:g.1424049_1424052del , CM000667.1:g.1424049_1424052del GRCh37
NC_000005.8:g.1477049_1477052del NCBI36
NG_015885.1:g.26492_26495del

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1923_654-1920del MANE Select ENSP00000270349.9:n.654-1923_654-1920del
ENST00000270349.11:c.654-1923_654-1920del ENSP00000270349.9:n.654-1923_654-1920del
NM_001044.4:c.654-1923_654-1920del NP_001035.1:n.654-1923_654-1920del
NM_001044.5:c.654-1923_654-1920del MANE Select NP_001035.1:n.654-1923_654-1920del
Search 100 bp 5'
Search 100 bp 3'