Canonical Allele Identifier: CA1072524400
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414438-G-GGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGT
gnomAD v4: 5-1414438-G-GGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414458_1414459insAAGGGAAGGCACTGGGTGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414458_1414459insAAGGGAAGGCACTGGGTGGGGGCCGGGAGGGGCAGGG GRCh38
NC_000005.9:g.1414573_1414574insAAGGGAAGGCACTGGGTGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414573_1414574insAAGGGAAGGCACTGGGTGGGGGCCGGGAGGGGCAGGG GRCh37
NC_000005.8:g.1467573_1467574insAAGGGAAGGCACTGGGTGGGGGCCGGGAGGGGCAGGG NCBI36
NG_015885.1:g.35990_35991insACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCC MANE Select ENSP00000270349.9:n.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCT...
ENST00000270349.11:c.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCC ENSP00000270349.9:n.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCT...
NM_001044.4:c.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCC NP_001035.1:n.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCTGCCCCT...
NM_001044.5:c.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCC MANE Select NP_001035.1:n.1156+252_1156+253insACCCAGTGCCTTCCCTTCCCTGCCCCT...
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