Canonical Allele Identifier: CA557566017
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v2: 5-1414541-AAGG-A
MyVariant Identifiers: chr5:g.1414542_1414544del (hg19) chr5:g.1414427_1414429del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414427_1414429del , CM000667.2:g.1414427_1414429del GRCh38
NC_000005.9:g.1414542_1414544del , CM000667.1:g.1414542_1414544del GRCh37
NC_000005.8:g.1467542_1467544del NCBI36
NG_015885.1:g.36000_36002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+262_1156+264del MANE Select ENSP00000270349.9:n.1156+262_1156+264del
ENST00000270349.11:c.1156+262_1156+264del ENSP00000270349.9:n.1156+262_1156+264del
NM_001044.4:c.1156+262_1156+264del NP_001035.1:n.1156+262_1156+264del
NM_001044.5:c.1156+262_1156+264del MANE Select NP_001035.1:n.1156+262_1156+264del
Search 100 bp 5'
Search 100 bp 3'