Canonical Allele Identifier: CA2831372792
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGGCCGGGAGGGG , CM000667.2:g.1414518_1414519insGGCCGGGAGGGG GRCh38
NC_000005.9:g.1414633_1414634insGGCCGGGAGGGG , CM000667.1:g.1414633_1414634insGGCCGGGAGGGG GRCh37
NC_000005.8:g.1467633_1467634insGGCCGGGAGGGG NCBI36
NG_015885.1:g.35914_35915insTCCCGGCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+176_1156+177insTCCCGGCCCCCC MANE Select ENSP00000270349.9:n.1156+176_1156+177insTCCCGGCCCCCC
ENST00000270349.11:c.1156+176_1156+177insTCCCGGCCCCCC ENSP00000270349.9:n.1156+176_1156+177insTCCCGGCCCCCC
NM_001044.4:c.1156+176_1156+177insTCCCGGCCCCCC NP_001035.1:n.1156+176_1156+177insTCCCGGCCCCCC
NM_001044.5:c.1156+176_1156+177insTCCCGGCCCCCC MANE Select NP_001035.1:n.1156+176_1156+177insTCCCGGCCCCCC