Canonical Allele Identifier: CA2765046052
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGCGGCAGGGCGGGGAAGGCCC , CM000667.2:g.1414483_1414484insGGGAGCGGCAGGGCGGGGAAGGCCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGCGGCAGGGCGGGGAAGGCCC , CM000667.1:g.1414598_1414599insGGGAGCGGCAGGGCGGGGAAGGCCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGCGGCAGGGCGGGGAAGGCCC NCBI36
NG_015885.1:g.35947_35948insGCCTTCCCCGCCCTGCCGCTCCCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTCCCGG MANE Select ENSP00000270349.9:n.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTC...
ENST00000270349.11:c.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTCCCGG ENSP00000270349.9:n.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTC...
NM_001044.4:c.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTCCCGG NP_001035.1:n.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTCCCGG
NM_001044.5:c.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTCCCGG MANE Select NP_001035.1:n.1156+209_1156+210insGCCTTCCCCGCCCTGCCGCTCCCGG