Canonical Allele Identifier: CA112961476
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs367736576
gnomAD v2: 5-1411065-ATG-A
gnomAD v3: 5-1410950-ATG-A
gnomAD v4: 5-1410950-ATG-A
MyVariant Identifiers: chr5:g.1411066_1411067del (hg19) chr5:g.1410951_1410952del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1410961_1410962del , CM000667.2:g.1410961_1410962del GRCh38
NC_000005.9:g.1411076_1411077del , CM000667.1:g.1411076_1411077del GRCh37
NC_000005.8:g.1464076_1464077del NCBI36
NG_015885.1:g.39477_39478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+291_1269+292del MANE Select ENSP00000270349.9:n.1269+291_1269+292del
ENST00000270349.11:c.1269+291_1269+292del ENSP00000270349.9:n.1269+291_1269+292del
NM_001044.4:c.1269+291_1269+292del NP_001035.1:n.1269+291_1269+292del
NM_001044.5:c.1269+291_1269+292del MANE Select NP_001035.1:n.1269+291_1269+292del
Search 100 bp 5'
Search 100 bp 3'