Canonical Allele Identifier: CA804782793
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1201734657
gnomAD v3: 5-1414437-TG-T
gnomAD v4: 5-1414437-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414443del , CM000667.2:g.1414443del GRCh38
NC_000005.9:g.1414558del , CM000667.1:g.1414558del GRCh37
NC_000005.8:g.1467558del NCBI36
NG_015885.1:g.35991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+253del MANE Select ENSP00000270349.9:n.1156+253del
ENST00000270349.11:c.1156+253del ENSP00000270349.9:n.1156+253del
NM_001044.4:c.1156+253del NP_001035.1:n.1156+253del
NM_001044.5:c.1156+253del MANE Select NP_001035.1:n.1156+253del