Canonical Allele Identifier: CA557566056
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs549470632
gnomAD v2: 5-1414590-TG-T
gnomAD v3: 5-1414475-TG-T
gnomAD v4: 5-1414475-TG-T
MyVariant Identifiers: chr5:g.1414591del (hg19) chr5:g.1414476del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414481del , CM000667.2:g.1414481del GRCh38
NC_000005.9:g.1414596del , CM000667.1:g.1414596del GRCh37
NC_000005.8:g.1467596del NCBI36
NG_015885.1:g.35953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+215del MANE Select ENSP00000270349.9:n.1156+215del
ENST00000270349.11:c.1156+215del ENSP00000270349.9:n.1156+215del
NM_001044.4:c.1156+215del NP_001035.1:n.1156+215del
NM_001044.5:c.1156+215del MANE Select NP_001035.1:n.1156+215del
Search 100 bp 5'
Search 100 bp 3'