Canonical Allele Identifier: CA2590929224
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414460-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCA
gnomAD v4: 5-1414460-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGAAGGCGCTGGGTGGGGGGCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGAAGGCGCTGGGTGGGGGGCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGAAGGCGCTGGGTGGGGGGCC NCBI36
NG_015885.1:g.35968_35969insTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

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