Canonical Allele Identifier: CA1072524753

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35968_35969insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

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