Canonical Allele Identifier: CA557569357

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1247979902
• gnomAD v2: 5-1423828-ACT-A
• gnomAD v3: 5-1423713-ACT-A
• gnomAD v4: 5-1423713-ACT-A
• MyVariant Identifiers: chr5:g.1423829_1423830del (hg19) ; chr5:g.1423714_1423715del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1423718_1423719del , CM000667.2:g.1423718_1423719del	GRCh38
NC_000005.9:g.1423833_1423834del , CM000667.1:g.1423833_1423834del	GRCh37
NC_000005.8:g.1476833_1476834del	NCBI36
NG_015885.1:g.26714_26715del

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.654-1701_654-1700del MANE Select	ENSP00000270349.9:n.654-1701_654-1700del
ENST00000270349.11:c.654-1701_654-1700del	ENSP00000270349.9:n.654-1701_654-1700del
NM_001044.4:c.654-1701_654-1700del	NP_001035.1:n.654-1701_654-1700del
NM_001044.5:c.654-1701_654-1700del MANE Select	NP_001035.1:n.654-1701_654-1700del