Canonical Allele Identifier: CA804997737
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1472666957
gnomAD v3: 5-1444262-TGAGCAGGA-T
gnomAD v4: 5-1444262-TGAGCAGGA-T
MyVariant Identifiers: chr5:g.1444378_1444385del (hg19) chr5:g.1444263_1444270del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444272_1444279del , CM000667.2:g.1444272_1444279del GRCh38
NC_000005.9:g.1444387_1444394del , CM000667.1:g.1444387_1444394del GRCh37
NC_000005.8:g.1497387_1497394del NCBI36
NG_015885.1:g.6159_6166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-1028_-45-1021del MANE Select ENSP00000270349.9:n.-45-1028_-45-1021del
ENST00000270349.11:c.-45-1028_-45-1021del ENSP00000270349.9:n.-45-1028_-45-1021del
NM_001044.4:c.-45-1028_-45-1021del NP_001035.1:n.-45-1028_-45-1021del
NM_001044.5:c.-45-1028_-45-1021del MANE Select NP_001035.1:n.-45-1028_-45-1021del
Search 100 bp 5'
Search 100 bp 3'