Canonical Allele Identifier: CA1072522209
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414399-G-GGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGT
gnomAD v4: 5-1414399-G-GGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GRCh38
NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GRCh37
NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC NCBI36
NG_015885.1:g.36029_36030insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC MANE Select ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCT...
ENST00000270349.11:c.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCT...
NM_001044.4:c.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCT...
NM_001044.5:c.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC MANE Select NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCT...
Search 100 bp 5'
Search 100 bp 3'