Canonical Allele Identifier: CA112962231
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs3056480
gnomAD v2: 5-1431185-TCTC-T
gnomAD v3: 5-1431070-TCTC-T
gnomAD v4: 5-1431070-TCTC-T
MyVariant Identifiers: chr5:g.1431186_1431188del (hg19) chr5:g.1431071_1431073del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1431077_1431079del , CM000667.2:g.1431077_1431079del GRCh38
NC_000005.9:g.1431192_1431194del , CM000667.1:g.1431192_1431194del GRCh37
NC_000005.8:g.1484192_1484194del NCBI36
NG_015885.1:g.19356_19358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+1391_653+1393del MANE Select ENSP00000270349.9:n.653+1391_653+1393del
ENST00000270349.11:c.653+1391_653+1393del ENSP00000270349.9:n.653+1391_653+1393del
NM_001044.4:c.653+1391_653+1393del NP_001035.1:n.653+1391_653+1393del
NM_001044.5:c.653+1391_653+1393del MANE Select NP_001035.1:n.653+1391_653+1393del
Search 100 bp 5'
Search 100 bp 3'