Canonical Allele Identifier: CA1072525851
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCC NCBI36
NG_015885.1:g.35953_35954insCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC

Transcript Alleles

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