Canonical Allele Identifier: CA1072521851
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414374-GCA-G
gnomAD v4: 5-1414374-GCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414377_1414378del , CM000667.2:g.1414377_1414378del GRCh38
NC_000005.9:g.1414492_1414493del , CM000667.1:g.1414492_1414493del GRCh37
NC_000005.8:g.1467492_1467493del NCBI36
NG_015885.1:g.36053_36054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+315_1156+316del MANE Select ENSP00000270349.9:n.1156+315_1156+316del
ENST00000270349.11:c.1156+315_1156+316del ENSP00000270349.9:n.1156+315_1156+316del
NM_001044.4:c.1156+315_1156+316del NP_001035.1:n.1156+315_1156+316del
NM_001044.5:c.1156+315_1156+316del MANE Select NP_001035.1:n.1156+315_1156+316del
Search 100 bp 5'
Search 100 bp 3'