Canonical Allele Identifier: CA917398595
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1579709303
gnomAD v3: 5-1414408-TGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCG-T
gnomAD v4: 5-1414408-TGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414424_1414461del , CM000667.2:g.1414424_1414461del GRCh38
NC_000005.9:g.1414539_1414576del , CM000667.1:g.1414539_1414576del GRCh37
NC_000005.8:g.1467539_1467576del NCBI36
NG_015885.1:g.35983_36020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+245_1156+282del MANE Select ENSP00000270349.9:n.1156+245_1156+282del
ENST00000270349.11:c.1156+245_1156+282del ENSP00000270349.9:n.1156+245_1156+282del
NM_001044.4:c.1156+245_1156+282del NP_001035.1:n.1156+245_1156+282del
NM_001044.5:c.1156+245_1156+282del MANE Select NP_001035.1:n.1156+245_1156+282del
Search 100 bp 5'
Search 100 bp 3'