Canonical Allele Identifier: CA557555734

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1476149389
• gnomAD v2: 5-1444502-AACACACATACACACTCACACACACACAGGCGAGCACATACACTT-A
• gnomAD v3: 5-1444387-AACACACATACACACTCACACACACACAGGCGAGCACATACACTT-A
• gnomAD v4: 5-1444387-AACACACATACACACTCACACACACACAGGCGAGCACATACACTT-A
• MyVariant Identifiers: chr5:g.1444503_1444546del (hg19) ; chr5:g.1444388_1444431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1444408_1444451del , CM000667.2:g.1444408_1444451del	GRCh38
NC_000005.9:g.1444523_1444566del , CM000667.1:g.1444523_1444566del	GRCh37
NC_000005.8:g.1497523_1497566del	NCBI36
NG_015885.1:g.5998_6041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.-46+917_-46+960del MANE Select	ENSP00000270349.9:n.-46+917_-46+960del
ENST00000270349.11:c.-46+917_-46+960del	ENSP00000270349.9:n.-46+917_-46+960del
NM_001044.4:c.-46+917_-46+960del	NP_001035.1:n.-46+917_-46+960del
NM_001044.5:c.-46+917_-46+960del MANE Select	NP_001035.1:n.-46+917_-46+960del