Canonical Allele Identifier: CA1072525927

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756219868
• gnomAD v3: 5-1414483-C-CGGGAGGGGCAGGG
• gnomAD v4: 5-1414483-C-CGGGAGGGGCAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGG , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGG	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGG , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGG	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGG	NCBI36
NG_015885.1:g.35945_35946insCCCTGCCCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+207_1156+208insCCCTGCCCCTCCC MANE Select	ENSP00000270349.9:n.1156+207_1156+208insCCCTGCCCCTCCC
ENST00000270349.11:c.1156+207_1156+208insCCCTGCCCCTCCC	ENSP00000270349.9:n.1156+207_1156+208insCCCTGCCCCTCCC
NM_001044.4:c.1156+207_1156+208insCCCTGCCCCTCCC	NP_001035.1:n.1156+207_1156+208insCCCTGCCCCTCCC
NM_001044.5:c.1156+207_1156+208insCCCTGCCCCTCCC MANE Select	NP_001035.1:n.1156+207_1156+208insCCCTGCCCCTCCC