Canonical Allele Identifier: CA557566049
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1341800273
gnomAD v2: 5-1414582-GCGC-G
gnomAD v3: 5-1414467-GCGC-G
gnomAD v4: 5-1414467-GCGC-G
MyVariant Identifiers: chr5:g.1414583_1414585del (hg19) chr5:g.1414468_1414470del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414468_1414470del , CM000667.2:g.1414468_1414470del GRCh38
NC_000005.9:g.1414583_1414585del , CM000667.1:g.1414583_1414585del GRCh37
NC_000005.8:g.1467583_1467585del NCBI36
NG_015885.1:g.35959_35961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+221_1156+223del MANE Select ENSP00000270349.9:n.1156+221_1156+223del
ENST00000270349.11:c.1156+221_1156+223del ENSP00000270349.9:n.1156+221_1156+223del
NM_001044.4:c.1156+221_1156+223del NP_001035.1:n.1156+221_1156+223del
NM_001044.5:c.1156+221_1156+223del MANE Select NP_001035.1:n.1156+221_1156+223del
Search 100 bp 5'
Search 100 bp 3'