Canonical Allele Identifier: CA557566051
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912972
gnomAD v2: 5-1414583-C-CACT
gnomAD v3: 5-1414468-C-CACT
gnomAD v4: 5-1414468-C-CACT
MyVariant Identifiers: chr5:g.1414584_1414601delinsACTGCTGGGTGGGGGGCCTGG (hg19) chr5:g.1414469_1414486delinsACTGCTGGGTGGGGGGCCTGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414468_1414469insACT , CM000667.2:g.1414468_1414469insACT GRCh38
NC_000005.9:g.1414583_1414584insACT , CM000667.1:g.1414583_1414584insACT GRCh37
NC_000005.8:g.1467583_1467584insACT NCBI36
NG_015885.1:g.35960_35961insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+222_1156+223insAGT MANE Select ENSP00000270349.9:n.1156+222_1156+223insAGT
ENST00000270349.11:c.1156+222_1156+223insAGT ENSP00000270349.9:n.1156+222_1156+223insAGT
NM_001044.4:c.1156+222_1156+223insAGT NP_001035.1:n.1156+222_1156+223insAGT
NM_001044.5:c.1156+222_1156+223insAGT MANE Select NP_001035.1:n.1156+222_1156+223insAGT
Search 100 bp 5'
Search 100 bp 3'