Canonical Allele Identifier: CA1072524779
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756215582
gnomAD v3: 5-1414460-G-GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA
gnomAD v4: 5-1414460-G-GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414462_1414463insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG , CM000667.2:g.1414462_1414463insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG GRCh38
NC_000005.9:g.1414577_1414578insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG , CM000667.1:g.1414577_1414578insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG GRCh37
NC_000005.8:g.1467577_1467578insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG NCBI36
NG_015885.1:g.35968_35969insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC MANE Select ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC...
ENST00000270349.11:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC...
NM_001044.4:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC MANE Select NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC...
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