Canonical Allele Identifier: CA1072527659
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756226735
gnomAD v3: 5-1414518-G-GGCCTGGAGGGGCAGGGCGGGGAAGGCA
gnomAD v4: 5-1414518-G-GGCCTGGAGGGGCAGGGCGGGGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCTGGAGGGGCAGGGCGGGGAAGGCA , CM000667.2:g.1414518_1414519insGCCTGGAGGGGCAGGGCGGGGAAGGCA GRCh38
NC_000005.9:g.1414633_1414634insGCCTGGAGGGGCAGGGCGGGGAAGGCA , CM000667.1:g.1414633_1414634insGCCTGGAGGGGCAGGGCGGGGAAGGCA GRCh37
NC_000005.8:g.1467633_1467634insGCCTGGAGGGGCAGGGCGGGGAAGGCA NCBI36
NG_015885.1:g.35910_35911insTGCCTTCCCCGCCCTGCCCCTCCAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCTCCAGGC MANE Select ENSP00000270349.9:n.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCTCCAGGC ENSP00000270349.9:n.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCT...
NM_001044.4:c.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCTCCAGGC NP_001035.1:n.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCTCCAGGC...
NM_001044.5:c.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCTCCAGGC MANE Select NP_001035.1:n.1156+172_1156+173insTGCCTTCCCCGCCCTGCCCCTCCAGGC...
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