Canonical Allele Identifier: CA1072522797
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756209918
gnomAD v3: 5-1414422-G-GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA
gnomAD v4: 5-1414422-G-GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.2:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG GRCh38
NC_000005.9:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.1:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG GRCh37
NC_000005.8:g.1467538_1467539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG NCBI36
NG_015885.1:g.36006_36007insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC...
ENST00000270349.11:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC...
NM_001044.4:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCC...
Search 100 bp 5'
Search 100 bp 3'