Canonical Allele Identifier: CA557566048
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1331590941
gnomAD v2: 5-1414580-AGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG-A
gnomAD v3: 5-1414465-AGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG-A
gnomAD v4: 5-1414465-AGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG-A
MyVariant Identifiers: chr5:g.1414581_1414613del (hg19) chr5:g.1414466_1414498del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414468_1414500del , CM000667.2:g.1414468_1414500del GRCh38
NC_000005.9:g.1414583_1414615del , CM000667.1:g.1414583_1414615del GRCh37
NC_000005.8:g.1467583_1467615del NCBI36
NG_015885.1:g.35931_35963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+193_1156+225del MANE Select ENSP00000270349.9:n.1156+193_1156+225del
ENST00000270349.11:c.1156+193_1156+225del ENSP00000270349.9:n.1156+193_1156+225del
NM_001044.4:c.1156+193_1156+225del NP_001035.1:n.1156+193_1156+225del
NM_001044.5:c.1156+193_1156+225del MANE Select NP_001035.1:n.1156+193_1156+225del
Search 100 bp 5'
Search 100 bp 3'