Canonical Allele Identifier: CA557569338
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1184315272
gnomAD v2: 5-1423698-GT-G
gnomAD v3: 5-1423583-GT-G
gnomAD v4: 5-1423583-GT-G
MyVariant Identifiers: chr5:g.1423699del (hg19) chr5:g.1423584del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423589del , CM000667.2:g.1423589del GRCh38
NC_000005.9:g.1423704del , CM000667.1:g.1423704del GRCh37
NC_000005.8:g.1476704del NCBI36
NG_015885.1:g.26845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.654-1570del MANE Select ENSP00000270349.9:n.654-1570del
ENST00000270349.11:c.654-1570del ENSP00000270349.9:n.654-1570del
NM_001044.4:c.654-1570del NP_001035.1:n.654-1570del
NM_001044.5:c.654-1570del MANE Select NP_001035.1:n.654-1570del
Search 100 bp 5'
Search 100 bp 3'