Canonical Allele Identifier: CA557552384

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1468775236
• gnomAD v2: 5-1430980-CAA-C
• gnomAD v3: 5-1430865-CAA-C
• gnomAD v4: 5-1430865-CAA-C
• MyVariant Identifiers: chr5:g.1430981_1430982del (hg19) ; chr5:g.1430866_1430867del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1430868_1430869del , CM000667.2:g.1430868_1430869del	GRCh38
NC_000005.9:g.1430983_1430984del , CM000667.1:g.1430983_1430984del	GRCh37
NC_000005.8:g.1483983_1483984del	NCBI36
NG_015885.1:g.19562_19563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.653+1597_653+1598del MANE Select	ENSP00000270349.9:n.653+1597_653+1598del
ENST00000270349.11:c.653+1597_653+1598del	ENSP00000270349.9:n.653+1597_653+1598del
NM_001044.4:c.653+1597_653+1598del	NP_001035.1:n.653+1597_653+1598del
NM_001044.5:c.653+1597_653+1598del MANE Select	NP_001035.1:n.653+1597_653+1598del