Canonical Allele Identifier: CA1138542597

Gene: SLC6A8

Linked Data

• dbSNP Id: rs2091474790
• gnomAD v3: X-153694263-CTGA-C
• gnomAD v4: X-153694263-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694266_153694268del , CM000685.2:g.153694266_153694268del	GRCh38
NC_000023.10:g.152959721_152959723del , CM000685.1:g.152959721_152959723del	GRCh37
NC_000023.9:g.152612915_152612917del	NCBI36
NG_012016.1:g.10970_10972del
NG_012016.2:g.10970_10972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1391_1392+1del
ENST00000253122.9:c.1391_1392+1del
ENST00000413787.1:c.320_321+1del
ENST00000430077.6:c.1046_1047+1del
ENST00000442457.1:c.445_446+1del
ENST00000485324.1:n.1536_1538del
NM_001142805.1:c.1361_1362+1del
NM_001142806.1:c.1046_1047+1del
NM_005629.3:c.1391_1392+1del
NM_005629.4:c.1391_1392+1del
NM_001142805.2:c.1361_1362+1del