Canonical Allele Identifier: CA1072524771

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.2:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG	GRCh38
NC_000005.9:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.1:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG	GRCh37
NC_000005.8:g.1467576_1467577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG	NCBI36
NG_015885.1:g.35968_35969insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC

Transcript Alleles

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