Canonical Allele Identifier: CA2765046280
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGG GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGG GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGAGG NCBI36
NG_015885.1:g.35912_35913insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select ENSP00000270349.9:n.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGC...
ENST00000270349.11:c.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC ENSP00000270349.9:n.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGC...
NM_001044.4:c.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC NP_001035.1:n.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGCCCTGCC...
NM_001044.5:c.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select NP_001035.1:n.1156+174_1156+175insTCCACCCAGCGCCTTCCCCGCCCTGCC...