Canonical Allele Identifier: CA2528070147
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414485_1414486insCTGGGTGGGGGCCGG , CM000667.2:g.1414485_1414486insCTGGGTGGGGGCCGG GRCh38
NC_000005.9:g.1414600_1414601insCTGGGTGGGGGCCGG , CM000667.1:g.1414600_1414601insCTGGGTGGGGGCCGG GRCh37
NC_000005.8:g.1467600_1467601insCTGGGTGGGGGCCGG NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCACCCAGC

Transcript Alleles

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