Canonical Allele Identifier: CA557566029
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912906
gnomAD v2: 5-1414561-G-GGCT
gnomAD v3: 5-1414446-G-GGCT
gnomAD v4: 5-1414446-G-GGCT
MyVariant Identifiers: chr5:g.1414561_1414562insGCT (hg19) chr5:g.1414446_1414447insGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414447_1414448insCTG , CM000667.2:g.1414447_1414448insCTG GRCh38
NC_000005.9:g.1414562_1414563insCTG , CM000667.1:g.1414562_1414563insCTG GRCh37
NC_000005.8:g.1467562_1467563insCTG NCBI36
NG_015885.1:g.35982_35983insAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+244_1156+245insAGC MANE Select ENSP00000270349.9:n.1156+244_1156+245insAGC
ENST00000270349.11:c.1156+244_1156+245insAGC ENSP00000270349.9:n.1156+244_1156+245insAGC
NM_001044.4:c.1156+244_1156+245insAGC NP_001035.1:n.1156+244_1156+245insAGC
NM_001044.5:c.1156+244_1156+245insAGC MANE Select NP_001035.1:n.1156+244_1156+245insAGC
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