Canonical Allele Identifier: CA1072521899
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756204748
gnomAD v3: 5-1414386-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG-A
gnomAD v4: 5-1414386-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414392_1414468del , CM000667.2:g.1414392_1414468del GRCh38
NC_000005.9:g.1414507_1414583del , CM000667.1:g.1414507_1414583del GRCh37
NC_000005.8:g.1467507_1467583del NCBI36
NG_015885.1:g.35966_36042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+228_1156+304del MANE Select ENSP00000270349.9:n.1156+228_1156+304del
ENST00000270349.11:c.1156+228_1156+304del ENSP00000270349.9:n.1156+228_1156+304del
NM_001044.4:c.1156+228_1156+304del NP_001035.1:n.1156+228_1156+304del
NM_001044.5:c.1156+228_1156+304del MANE Select NP_001035.1:n.1156+228_1156+304del
Search 100 bp 5'
Search 100 bp 3'