Canonical Allele Identifier: CA2527539833
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs2126357625
gnomAD v3: 5-1416025-ACC-A
gnomAD v4: 5-1416025-ACC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416027_1416028del , CM000667.2:g.1416027_1416028del GRCh38
NC_000005.9:g.1416142_1416143del , CM000667.1:g.1416142_1416143del GRCh37
NC_000005.8:g.1469142_1469143del NCBI36
NG_015885.1:g.34402_34403del

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1031+71_1031+72del MANE Select ENSP00000270349.9:n.1031+71_1031+72del
ENST00000270349.11:c.1031+71_1031+72del ENSP00000270349.9:n.1031+71_1031+72del
ENST00000511750.1:n.481+71_481+72del
NM_001044.4:c.1031+71_1031+72del NP_001035.1:n.1031+71_1031+72del
NM_001044.5:c.1031+71_1031+72del MANE Select NP_001035.1:n.1031+71_1031+72del
Search 100 bp 5'
Search 100 bp 3'