Canonical Allele Identifier: CA557555672

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1482105010
• gnomAD v2: 5-1443782-CTTTTTTCTTTT-C
• gnomAD v3: 5-1443667-CTTTTTTCTTTT-C
• gnomAD v4: 5-1443667-CTTTTTTCTTTT-C
• MyVariant Identifiers: chr5:g.1443783_1443793del (hg19) ; chr5:g.1443668_1443678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1443681_1443691del , CM000667.2:g.1443681_1443691del	GRCh38
NC_000005.9:g.1443796_1443806del , CM000667.1:g.1443796_1443806del	GRCh37
NC_000005.8:g.1496796_1496806del	NCBI36
NG_015885.1:g.6751_6761del

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.-45-436_-45-426del MANE Select	ENSP00000270349.9:n.-45-436_-45-426del
ENST00000270349.11:c.-45-436_-45-426del	ENSP00000270349.9:n.-45-436_-45-426del
NM_001044.4:c.-45-436_-45-426del	NP_001035.1:n.-45-436_-45-426del
NM_001044.5:c.-45-436_-45-426del MANE Select	NP_001035.1:n.-45-436_-45-426del