Canonical Allele Identifier: CA1072527679
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560913105
gnomAD v3: 5-1414520-A-AGGGCGGGGAAGGCACTGGGTGGGGGGCCG
gnomAD v4: 5-1414520-A-AGGGCGGGGAAGGCACTGGGTGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414522_1414523insGCGGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414522_1414523insGCGGGGAAGGCACTGGGTGGGGGGCCGGG GRCh38
NC_000005.9:g.1414637_1414638insGCGGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414637_1414638insGCGGGGAAGGCACTGGGTGGGGGGCCGGG GRCh37
NC_000005.8:g.1467637_1467638insGCGGGGAAGGCACTGGGTGGGGGGCCGGG NCBI36
NG_015885.1:g.35908_35909insCGGCCCCCCACCCAGTGCCTTCCCCGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCCCCGCCC MANE Select ENSP00000270349.9:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTT...
ENST00000270349.11:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCCCCGCCC ENSP00000270349.9:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTT...
NM_001044.4:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCCCCGCCC NP_001035.1:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCCCCGC...
NM_001044.5:c.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCCCCGCCC MANE Select NP_001035.1:n.1156+170_1156+171insCGGCCCCCCACCCAGTGCCTTCCCCGC...
Search 100 bp 5'
Search 100 bp 3'