Canonical Allele Identifier: CA1072524535
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414446-G-GGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCT
gnomAD v4: 5-1414446-G-GGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC GRCh38
NC_000005.9:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC GRCh37
NC_000005.8:g.1467574_1467575insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC MANE Select ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTT...
ENST00000270349.11:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTT...
NM_001044.4:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCTCTGC...
NM_001044.5:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC MANE Select NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCTCTGC...
Search 100 bp 5'
Search 100 bp 3'