Canonical Allele Identifier: CA1072521864
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414379-AGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGG-A
gnomAD v4: 5-1414379-AGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414386_1414419del , CM000667.2:g.1414386_1414419del GRCh38
NC_000005.9:g.1414501_1414534del , CM000667.1:g.1414501_1414534del GRCh37
NC_000005.8:g.1467501_1467534del NCBI36
NG_015885.1:g.36016_36049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+278_1156+311del MANE Select ENSP00000270349.9:n.1156+278_1156+311del
ENST00000270349.11:c.1156+278_1156+311del ENSP00000270349.9:n.1156+278_1156+311del
NM_001044.4:c.1156+278_1156+311del NP_001035.1:n.1156+278_1156+311del
NM_001044.5:c.1156+278_1156+311del MANE Select NP_001035.1:n.1156+278_1156+311del
Search 100 bp 5'
Search 100 bp 3'