Canonical Allele Identifier: CA917398606
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1579709387
gnomAD v3: 5-1414431-ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG-A
gnomAD v4: 5-1414431-ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414446_1414483del , CM000667.2:g.1414446_1414483del GRCh38
NC_000005.9:g.1414561_1414598del , CM000667.1:g.1414561_1414598del GRCh37
NC_000005.8:g.1467561_1467598del NCBI36
NG_015885.1:g.35960_35997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+222_1156+259del MANE Select ENSP00000270349.9:n.1156+222_1156+259del
ENST00000270349.11:c.1156+222_1156+259del ENSP00000270349.9:n.1156+222_1156+259del
NM_001044.4:c.1156+222_1156+259del NP_001035.1:n.1156+222_1156+259del
NM_001044.5:c.1156+222_1156+259del MANE Select NP_001035.1:n.1156+222_1156+259del
Search 100 bp 5'
Search 100 bp 3'