Canonical Allele Identifier: CA1072527568
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756225158
gnomAD v3: 5-1414507-G-GCTGGGTGGGGGGCCGGGAGGGTCAGGGCAGAGAAGGCA
gnomAD v4: 5-1414507-G-GCTGGGTGGGGGGCCGGGAGGGTCAGGGCAGAGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGG GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGG GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGG NCBI36
NG_015885.1:g.35921_35922insTGCCTTCTCTGCCCTGACCCTCCCGGCCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCTCCCGGCCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCT...
ENST00000270349.11:c.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCTCCCGGCCCCCCACCCAG ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCT...
NM_001044.4:c.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCTCCCGGCCCCCCACCCAG NP_001035.1:n.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCTCCCGGC...
NM_001044.5:c.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCTCCCGGCCCCCCACCCAG MANE Select NP_001035.1:n.1156+183_1156+184insTGCCTTCTCTGCCCTGACCCTCCCGGC...
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