Canonical Allele Identifier: CA2590929348
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCG
gnomAD v4: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGG GRCh38
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGG GRCh37
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGG NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTT...
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTT...
NM_001044.4:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCTGC...
NM_001044.5:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCTGC...
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