Canonical Allele Identifier: CA557565984

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560912748
• gnomAD v2: 5-1414501-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG-A
• gnomAD v3: 5-1414386-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG-A
• gnomAD v4: 5-1414386-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG-A
• MyVariant Identifiers: chr5:g.1414502_1414540del (hg19) ; chr5:g.1414387_1414425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414405_1414443del , CM000667.2:g.1414405_1414443del	GRCh38
NC_000005.9:g.1414520_1414558del , CM000667.1:g.1414520_1414558del	GRCh37
NC_000005.8:g.1467520_1467558del	NCBI36
NG_015885.1:g.36004_36042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+266_1156+304del MANE Select	ENSP00000270349.9:n.1156+266_1156+304del
ENST00000270349.11:c.1156+266_1156+304del	ENSP00000270349.9:n.1156+266_1156+304del
NM_001044.4:c.1156+266_1156+304del	NP_001035.1:n.1156+266_1156+304del
NM_001044.5:c.1156+266_1156+304del MANE Select	NP_001035.1:n.1156+266_1156+304del