Canonical Allele Identifier: CA1072527420
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756224748
gnomAD v3: 5-1414507-G-GGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA
gnomAD v4: 5-1414507-G-GGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414507_1414508insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA , CM000667.2:g.1414507_1414508insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA GRCh38
NC_000005.9:g.1414622_1414623insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA , CM000667.1:g.1414622_1414623insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA GRCh37
NC_000005.8:g.1467622_1467623insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACC

Transcript Alleles

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