Canonical Allele Identifier: CA917398610
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1579709433
gnomAD v3: 5-1414446-GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCT-G
gnomAD v4: 5-1414446-GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414453_1414490del , CM000667.2:g.1414453_1414490del GRCh38
NC_000005.9:g.1414568_1414605del , CM000667.1:g.1414568_1414605del GRCh37
NC_000005.8:g.1467568_1467605del NCBI36
NG_015885.1:g.35945_35982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+207_1156+244del MANE Select ENSP00000270349.9:n.1156+207_1156+244del
ENST00000270349.11:c.1156+207_1156+244del ENSP00000270349.9:n.1156+207_1156+244del
NM_001044.4:c.1156+207_1156+244del NP_001035.1:n.1156+207_1156+244del
NM_001044.5:c.1156+207_1156+244del MANE Select NP_001035.1:n.1156+207_1156+244del
Search 100 bp 5'
Search 100 bp 3'