Canonical Allele Identifier: CA557565998
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1191109179
gnomAD v2: 5-1414526-AGG-A
gnomAD v3: 5-1414411-AGG-A
gnomAD v4: 5-1414411-AGG-A
MyVariant Identifiers: chr5:g.1414527_1414528del (hg19) chr5:g.1414412_1414413del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414414_1414415del , CM000667.2:g.1414414_1414415del GRCh38
NC_000005.9:g.1414529_1414530del , CM000667.1:g.1414529_1414530del GRCh37
NC_000005.8:g.1467529_1467530del NCBI36
NG_015885.1:g.36016_36017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+278_1156+279del MANE Select ENSP00000270349.9:n.1156+278_1156+279del
ENST00000270349.11:c.1156+278_1156+279del ENSP00000270349.9:n.1156+278_1156+279del
NM_001044.4:c.1156+278_1156+279del NP_001035.1:n.1156+278_1156+279del
NM_001044.5:c.1156+278_1156+279del MANE Select NP_001035.1:n.1156+278_1156+279del
Search 100 bp 5'
Search 100 bp 3'