Canonical Allele Identifier: CA557566050
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912981
gnomAD v2: 5-1414583-CGCTGGGTGGGGGGCCTGG-C
gnomAD v3: 5-1414468-CGCTGGGTGGGGGGCCTGG-C
gnomAD v4: 5-1414468-CGCTGGGTGGGGGGCCTGG-C
MyVariant Identifiers: chr5:g.1414584_1414601del (hg19) chr5:g.1414469_1414486del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414469_1414486del , CM000667.2:g.1414469_1414486del GRCh38
NC_000005.9:g.1414584_1414601del , CM000667.1:g.1414584_1414601del GRCh37
NC_000005.8:g.1467584_1467601del NCBI36
NG_015885.1:g.35943_35960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+205_1156+222del MANE Select ENSP00000270349.9:n.1156+205_1156+222del
ENST00000270349.11:c.1156+205_1156+222del ENSP00000270349.9:n.1156+205_1156+222del
NM_001044.4:c.1156+205_1156+222del NP_001035.1:n.1156+205_1156+222del
NM_001044.5:c.1156+205_1156+222del MANE Select NP_001035.1:n.1156+205_1156+222del
Search 100 bp 5'
Search 100 bp 3'