Canonical Allele Identifier: CA1072526768
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414491-T-TGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG
gnomAD v4: 5-1414491-T-TGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414491_1414492insGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG , CM000667.2:g.1414491_1414492insGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG GRCh38
NC_000005.9:g.1414606_1414607insGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG , CM000667.1:g.1414606_1414607insGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG GRCh37
NC_000005.8:g.1467606_1467607insGGGGAAGGCGCTAGGTGGGGGGCCGGGAGGGG NCBI36
NG_015885.1:g.35937_35938insCCCCTCCCGGCCCCCCACCTAGCGCCTTCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTAGCGCCTTCCCC MANE Select ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTA...
ENST00000270349.11:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTAGCGCCTTCCCC ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTA...
NM_001044.4:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTAGCGCCTTCCCC NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTAGCGCCT...
NM_001044.5:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTAGCGCCTTCCCC MANE Select NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCTAGCGCCT...
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