Canonical Allele Identifier: CA1072527671

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756226917
• gnomAD v3: 5-1414519-C-CCTGG
• gnomAD v4: 5-1414519-C-CCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414519_1414520insCTGG , CM000667.2:g.1414519_1414520insCTGG	GRCh38
NC_000005.9:g.1414634_1414635insCTGG , CM000667.1:g.1414634_1414635insCTGG	GRCh37
NC_000005.8:g.1467634_1467635insCTGG	NCBI36
NG_015885.1:g.35909_35910insCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+171_1156+172insCCAG MANE Select	ENSP00000270349.9:n.1156+171_1156+172insCCAG
ENST00000270349.11:c.1156+171_1156+172insCCAG	ENSP00000270349.9:n.1156+171_1156+172insCCAG
NM_001044.4:c.1156+171_1156+172insCCAG	NP_001035.1:n.1156+171_1156+172insCCAG
NM_001044.5:c.1156+171_1156+172insCCAG MANE Select	NP_001035.1:n.1156+171_1156+172insCCAG