Canonical Allele Identifier: CA2538357418
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGGGCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGGGCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGGGCC NCBI36
NG_015885.1:g.35950_35951insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select ENSP00000270349.9:n.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGC...
ENST00000270349.11:c.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC ENSP00000270349.9:n.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGC...
NM_001044.4:c.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC NP_001035.1:n.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGCCCTGCC...
NM_001044.5:c.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select NP_001035.1:n.1156+212_1156+213insTCCACCCAGCGCCTTCCCCGCCCTGCC...