Canonical Allele Identifier: CA557555736

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1387303677
• gnomAD v2: 5-1444511-ACACACT-A
• gnomAD v3: 5-1444396-ACACACT-A
• gnomAD v4: 5-1444396-ACACACT-A
• MyVariant Identifiers: chr5:g.1444512_1444517del (hg19) ; chr5:g.1444397_1444402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1444402_1444407del , CM000667.2:g.1444402_1444407del	GRCh38
NC_000005.9:g.1444517_1444522del , CM000667.1:g.1444517_1444522del	GRCh37
NC_000005.8:g.1497517_1497522del	NCBI36
NG_015885.1:g.6027_6032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.-46+946_-46+951del MANE Select	ENSP00000270349.9:n.-46+946_-46+951del
ENST00000270349.11:c.-46+946_-46+951del	ENSP00000270349.9:n.-46+946_-46+951del
NM_001044.4:c.-46+946_-46+951del	NP_001035.1:n.-46+946_-46+951del
NM_001044.5:c.-46+946_-46+951del MANE Select	NP_001035.1:n.-46+946_-46+951del