Canonical Allele Identifier: CA1072522769

Gene: SLC6A3

Linked Data

• dbSNP Id: rs781377663
• gnomAD v3: 5-1414421-C-CACTGGGTGGGGGGCCG
• gnomAD v4: 5-1414421-C-CACTGGGTGGGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414421_1414422insACTGGGTGGGGGGCCG , CM000667.2:g.1414421_1414422insACTGGGTGGGGGGCCG	GRCh38
NC_000005.9:g.1414536_1414537insACTGGGTGGGGGGCCG , CM000667.1:g.1414536_1414537insACTGGGTGGGGGGCCG	GRCh37
NC_000005.8:g.1467536_1467537insACTGGGTGGGGGGCCG	NCBI36
NG_015885.1:g.36007_36008insCGGCCCCCCACCCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+269_1156+270insCGGCCCCCCACCCAGT MANE Select	ENSP00000270349.9:n.1156+269_1156+270insCGGCCCCCCACCCAGT
ENST00000270349.11:c.1156+269_1156+270insCGGCCCCCCACCCAGT	ENSP00000270349.9:n.1156+269_1156+270insCGGCCCCCCACCCAGT
NM_001044.4:c.1156+269_1156+270insCGGCCCCCCACCCAGT	NP_001035.1:n.1156+269_1156+270insCGGCCCCCCACCCAGT
NM_001044.5:c.1156+269_1156+270insCGGCCCCCCACCCAGT MANE Select	NP_001035.1:n.1156+269_1156+270insCGGCCCCCCACCCAGT