Canonical Allele Identifier: CA1072523480

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756211503
• gnomAD v3: 5-1414424-AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG-A
• gnomAD v4: 5-1414424-AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414431_1414468del , CM000667.2:g.1414431_1414468del	GRCh38
NC_000005.9:g.1414546_1414583del , CM000667.1:g.1414546_1414583del	GRCh37
NC_000005.8:g.1467546_1467583del	NCBI36
NG_015885.1:g.35967_36004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+229_1156+266del MANE Select	ENSP00000270349.9:n.1156+229_1156+266del
ENST00000270349.11:c.1156+229_1156+266del	ENSP00000270349.9:n.1156+229_1156+266del
NM_001044.4:c.1156+229_1156+266del	NP_001035.1:n.1156+229_1156+266del
NM_001044.5:c.1156+229_1156+266del MANE Select	NP_001035.1:n.1156+229_1156+266del