Canonical Allele Identifier: CA804782792
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1207511327
gnomAD v3: 5-1414424-AG-A
gnomAD v4: 5-1414424-AG-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414425del , CM000667.2:g.1414425del GRCh38
NC_000005.9:g.1414540del , CM000667.1:g.1414540del GRCh37
NC_000005.8:g.1467540del NCBI36
NG_015885.1:g.36004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+266del MANE Select ENSP00000270349.9:n.1156+266del
ENST00000270349.11:c.1156+266del ENSP00000270349.9:n.1156+266del
NM_001044.4:c.1156+266del NP_001035.1:n.1156+266del
NM_001044.5:c.1156+266del MANE Select NP_001035.1:n.1156+266del