Canonical Allele Identifier: CA557566044
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912950
gnomAD v2: 5-1414575-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA
gnomAD v3: 5-1414460-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA
gnomAD v4: 5-1414460-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA
MyVariant Identifiers: chr5:g.1414575_1414576insGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA (hg19) chr5:g.1414460_1414461insGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC NCBI36
NG_015885.1:g.35968_35969insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC...
ENST00000270349.11:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC...
NM_001044.4:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC...
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