Canonical Allele Identifier: CA112970399
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs113657129
gnomAD v2: 5-1443789-CTTTTTTT-C
gnomAD v3: 5-1443674-CTTTTTTT-C
gnomAD v4: 5-1443674-CTTTTTTT-C
MyVariant Identifiers: chr5:g.1443790_1443796del (hg19) chr5:g.1443675_1443681del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443678_1443684del , CM000667.2:g.1443678_1443684del GRCh38
NC_000005.9:g.1443793_1443799del , CM000667.1:g.1443793_1443799del GRCh37
NC_000005.8:g.1496793_1496799del NCBI36
NG_015885.1:g.6748_6754del

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.-45-439_-45-433del MANE Select ENSP00000270349.9:n.-45-439_-45-433del
ENST00000270349.11:c.-45-439_-45-433del ENSP00000270349.9:n.-45-439_-45-433del
NM_001044.4:c.-45-439_-45-433del NP_001035.1:n.-45-439_-45-433del
NM_001044.5:c.-45-439_-45-433del MANE Select NP_001035.1:n.-45-439_-45-433del
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