Canonical Allele Identifier: CA112963101
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs781377663
gnomAD v2: 5-1414536-C-CA
gnomAD v3: 5-1414421-C-CA
gnomAD v4: 5-1414421-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414421_1414422insA , CM000667.2:g.1414421_1414422insA GRCh38
NC_000005.9:g.1414536_1414537insA , CM000667.1:g.1414536_1414537insA GRCh37
NC_000005.8:g.1467536_1467537insA NCBI36
NG_015885.1:g.36007_36008insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+269_1156+270insT MANE Select ENSP00000270349.9:n.1156+269_1156+270insT
ENST00000270349.11:c.1156+269_1156+270insT ENSP00000270349.9:n.1156+269_1156+270insT
NM_001044.4:c.1156+269_1156+270insT NP_001035.1:n.1156+269_1156+270insT
NM_001044.5:c.1156+269_1156+270insT MANE Select NP_001035.1:n.1156+269_1156+270insT