Canonical Allele Identifier: CA557551939
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1177848084
gnomAD v2: 5-1428307-ACCTAGCAAAC-A
gnomAD v3: 5-1428192-ACCTAGCAAAC-A
gnomAD v4: 5-1428192-ACCTAGCAAAC-A
MyVariant Identifiers: chr5:g.1428308_1428317del (hg19) chr5:g.1428193_1428202del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1428193_1428202del , CM000667.2:g.1428193_1428202del GRCh38
NC_000005.9:g.1428308_1428317del , CM000667.1:g.1428308_1428317del GRCh37
NC_000005.8:g.1481308_1481317del NCBI36
NG_015885.1:g.22227_22236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4262_653+4271del MANE Select ENSP00000270349.9:n.653+4262_653+4271del
ENST00000270349.11:c.653+4262_653+4271del ENSP00000270349.9:n.653+4262_653+4271del
NM_001044.4:c.653+4262_653+4271del NP_001035.1:n.653+4262_653+4271del
NM_001044.5:c.653+4262_653+4271del MANE Select NP_001035.1:n.653+4262_653+4271del
Search 100 bp 5'
Search 100 bp 3'