Canonical Allele Identifier: CA1072522739

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756209119
• gnomAD v3: 5-1414418-G-GGAAA
• gnomAD v4: 5-1414418-G-GGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414419_1414420insAAAG , CM000667.2:g.1414419_1414420insAAAG	GRCh38
NC_000005.9:g.1414534_1414535insAAAG , CM000667.1:g.1414534_1414535insAAAG	GRCh37
NC_000005.8:g.1467534_1467535insAAAG	NCBI36
NG_015885.1:g.36010_36011insTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+272_1156+273insTTTC MANE Select	ENSP00000270349.9:n.1156+272_1156+273insTTTC
ENST00000270349.11:c.1156+272_1156+273insTTTC	ENSP00000270349.9:n.1156+272_1156+273insTTTC
NM_001044.4:c.1156+272_1156+273insTTTC	NP_001035.1:n.1156+272_1156+273insTTTC
NM_001044.5:c.1156+272_1156+273insTTTC MANE Select	NP_001035.1:n.1156+272_1156+273insTTTC