Canonical Allele Identifier: CA557564996

Gene: SLC6A3

Linked Data

• dbSNP Id: rs905530136
• gnomAD v2: 5-1411027-ATGTG-A
• gnomAD v3: 5-1410912-ATGTG-A
• gnomAD v4: 5-1410912-ATGTG-A
• MyVariant Identifiers: chr5:g.1411028_1411031del (hg19) ; chr5:g.1410913_1410916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1410918_1410921del , CM000667.2:g.1410918_1410921del	GRCh38
NC_000005.9:g.1411033_1411036del , CM000667.1:g.1411033_1411036del	GRCh37
NC_000005.8:g.1464033_1464036del	NCBI36
NG_015885.1:g.39513_39516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1269+327_1269+330del MANE Select	ENSP00000270349.9:n.1269+327_1269+330del
ENST00000270349.11:c.1269+327_1269+330del	ENSP00000270349.9:n.1269+327_1269+330del
NM_001044.4:c.1269+327_1269+330del	NP_001035.1:n.1269+327_1269+330del
NM_001044.5:c.1269+327_1269+330del MANE Select	NP_001035.1:n.1269+327_1269+330del