Canonical Allele Identifier: CA1072524733

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414460-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA
• gnomAD v4: 5-1414460-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35968_35969insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select	ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC...
ENST00000270349.11:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC	ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC...
NM_001044.4:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC	NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select	NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC...