Canonical Allele Identifier: CA2673095298
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1411131-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411136del , CM000667.2:g.1411136del GRCh38
NC_000005.9:g.1411251del , CM000667.1:g.1411251del GRCh37
NC_000005.8:g.1464251del NCBI36
NG_015885.1:g.39297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+111del MANE Select ENSP00000270349.9:n.1269+111del
ENST00000270349.11:c.1269+111del ENSP00000270349.9:n.1269+111del
NM_001044.4:c.1269+111del NP_001035.1:n.1269+111del
NM_001044.5:c.1269+111del MANE Select NP_001035.1:n.1269+111del