Canonical Allele Identifier: CA2765046067
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCTGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCTGGG GRCh38
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCTGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCTGGG GRCh37
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCTGGG NCBI36
NG_015885.1:g.35944_35945insCAGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select ENSP00000270349.9:n.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTT...
ENST00000270349.11:c.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC ENSP00000270349.9:n.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTT...
NM_001044.4:c.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC NP_001035.1:n.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTTCCCCGC...
NM_001044.5:c.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select NP_001035.1:n.1156+206_1156+207insCAGCCCCCCACCCAGCGCCTTCCCCGC...