Canonical Allele Identifier: CA557566072
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v2: 5-1414602-AGGGTCAGGGCGGGGAAGGCGCTGGGTGGG-A
gnomAD v3: 5-1414487-AGGGTCAGGGCGGGGAAGGCGCTGGGTGGG-A
gnomAD v4: 5-1414487-AGGGTCAGGGCGGGGAAGGCGCTGGGTGGG-A
MyVariant Identifiers: chr5:g.1414603_1414631del (hg19) chr5:g.1414488_1414516del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414490_1414518del , CM000667.2:g.1414490_1414518del GRCh38
NC_000005.9:g.1414605_1414633del , CM000667.1:g.1414605_1414633del GRCh37
NC_000005.8:g.1467605_1467633del NCBI36
NG_015885.1:g.35913_35941del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+175_1156+203del MANE Select ENSP00000270349.9:n.1156+175_1156+203del
ENST00000270349.11:c.1156+175_1156+203del ENSP00000270349.9:n.1156+175_1156+203del
NM_001044.4:c.1156+175_1156+203del NP_001035.1:n.1156+175_1156+203del
NM_001044.5:c.1156+175_1156+203del MANE Select NP_001035.1:n.1156+175_1156+203del
Search 100 bp 5'
Search 100 bp 3'