Canonical Allele Identifier: CA557555733
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560929855
gnomAD v2: 5-1444484-GAC-G
gnomAD v3: 5-1444369-GAC-G
gnomAD v4: 5-1444369-GAC-G
MyVariant Identifiers: chr5:g.1444491_1444492del (hg19) chr5:g.1444376_1444377del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444377_1444378del , CM000667.2:g.1444377_1444378del GRCh38
NC_000005.9:g.1444492_1444493del , CM000667.1:g.1444492_1444493del GRCh37
NC_000005.8:g.1497492_1497493del NCBI36
NG_015885.1:g.6058_6059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+977_-46+978del MANE Select ENSP00000270349.9:n.-46+977_-46+978del
ENST00000270349.11:c.-46+977_-46+978del ENSP00000270349.9:n.-46+977_-46+978del
NM_001044.4:c.-46+977_-46+978del NP_001035.1:n.-46+977_-46+978del
NM_001044.5:c.-46+977_-46+978del MANE Select NP_001035.1:n.-46+977_-46+978del
Search 100 bp 5'
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