Canonical Allele Identifier: CA1072525844
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414475-T-TGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTG
gnomAD v4: 5-1414475-T-TGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414481_1414482insGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG , CM000667.2:g.1414481_1414482insGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG GRCh38
NC_000005.9:g.1414596_1414597insGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG , CM000667.1:g.1414596_1414597insGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG GRCh37
NC_000005.8:g.1467596_1467597insGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG NCBI36
NG_015885.1:g.35953_35954insCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCC MANE Select ENSP00000270349.9:n.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCC...
ENST00000270349.11:c.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCC ENSP00000270349.9:n.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCC...
NM_001044.4:c.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCC NP_001035.1:n.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCCTGCCCC...
NM_001044.5:c.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCC MANE Select NP_001035.1:n.1156+215_1156+216insCACCCAGTGCCTTCCCTGCCCTGCCCC...
Search 100 bp 5'
Search 100 bp 3'