Canonical Allele Identifier: CA557561362
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1349900070
gnomAD v2: 5-1395131-G-GTGGTGGCCA
gnomAD v3: 5-1395016-G-GTGGTGGCCA
gnomAD v4: 5-1395016-G-GTGGTGGCCA
MyVariant Identifiers: chr5:g.1395131_1395132insTGGTGGCCA (hg19) chr5:g.1395016_1395017insTGGTGGCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1395025_1395033dup , CM000667.2:g.1395025_1395033dup GRCh38
NC_000005.9:g.1395140_1395148dup , CM000667.1:g.1395140_1395148dup GRCh37
NC_000005.8:g.1448140_1448148dup NCBI36
NG_015885.1:g.55404_55412dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1840-267_1840-259dup MANE Select ENSP00000270349.9:n.1840-267_1840-259dup
ENST00000270349.11:c.1840-267_1840-259dup ENSP00000270349.9:n.1840-267_1840-259dup
ENST00000512002.2:n.221-267_221-259dup
NM_001044.4:c.1840-267_1840-259dup NP_001035.1:n.1840-267_1840-259dup
NM_001044.5:c.1840-267_1840-259dup MANE Select NP_001035.1:n.1840-267_1840-259dup
Search 100 bp 5'
Search 100 bp 3'