Canonical Allele Identifier: CA2504480334
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGG GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGG GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGG NCBI36
NG_015885.1:g.35928_35929insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC MANE Select ENSP00000270349.9:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCC...
ENST00000270349.11:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC ENSP00000270349.9:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCC...
NM_001044.4:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC NP_001035.1:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCAC...
NM_001044.5:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC MANE Select NP_001035.1:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCAC...