Canonical Allele Identifier: CA1072522155
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756206652
gnomAD v3: 5-1414399-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGT-G
gnomAD v4: 5-1414399-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414408_1414445del , CM000667.2:g.1414408_1414445del GRCh38
NC_000005.9:g.1414523_1414560del , CM000667.1:g.1414523_1414560del GRCh37
NC_000005.8:g.1467523_1467560del NCBI36
NG_015885.1:g.35992_36029del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+254_1156+291del MANE Select ENSP00000270349.9:n.1156+254_1156+291del
ENST00000270349.11:c.1156+254_1156+291del ENSP00000270349.9:n.1156+254_1156+291del
NM_001044.4:c.1156+254_1156+291del NP_001035.1:n.1156+254_1156+291del
NM_001044.5:c.1156+254_1156+291del MANE Select NP_001035.1:n.1156+254_1156+291del
Search 100 bp 5'
Search 100 bp 3'