Canonical Allele Identifier: CA1072524866
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414462-G-GGAAGGCACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGA
gnomAD v4: 5-1414462-G-GGAAGGCACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGAGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGAGAAGGC GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGAGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGAGAAGGC GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGAGGGCCGGGAGGGGCAGGGCAGAGAAGGC NCBI36
NG_015885.1:g.35966_35967insTCTGCCCTGCCCCTCCCGGCCCTCCACCCAGTGCCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCTCCACCCAGTGCCTTC MANE Select ENSP00000270349.9:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCC...
ENST00000270349.11:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCTCCACCCAGTGCCTTC ENSP00000270349.9:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCC...
NM_001044.4:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCTCCACCCAGTGCCTTC NP_001035.1:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCTCCAC...
NM_001044.5:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCTCCACCCAGTGCCTTC MANE Select NP_001035.1:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCTCCAC...
Search 100 bp 5'
Search 100 bp 3'