Canonical Allele Identifier: CA341129

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 11698
• ClinVar RCV Id: RCV000012464 ; RCV000483506
• dbSNP Id: rs80338740
• gnomAD v2: X-152959433-GTTC-G
• gnomAD v3: X-153693978-GTTC-G
• gnomAD v4: X-153693978-GTTC-G
• MyVariant Identifiers: chrX:g.152959440_152959442del (hg19) ; chrX:g.152959434_152959436del (hg19) ; chrX:g.153693985_153693987del (hg38) ; chrX:g.153693979_153693981del (hg38)
• PubMed: PMID:12210795 ; PMID:15154114 ; PMID:20301745

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693985_153693987del , CM000685.2:g.153693985_153693987del	GRCh38
NC_000023.10:g.152959440_152959442del , CM000685.1:g.152959440_152959442del	GRCh37
NC_000023.9:g.152612634_152612636del	NCBI36
NG_012016.1:g.10689_10691del
NG_012016.2:g.10689_10691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1222_1224del MANE Select	ENSP00000253122.5:p.Phe408del
ENST00000253122.9:c.1222_1224del	ENSP00000253122.5:p.Phe408del
ENST00000413787.1:c.258-219_258-217del	ENSP00000400463.1:n.258-219_258-217del
ENST00000430077.6:c.877_879del	ENSP00000403041.2:p.Phe293del
ENST00000442457.1:c.276_278del
ENST00000457723.1:c.206_208del	ENSP00000394742.1:p.Leu69del
ENST00000485324.1:n.1255_1257del
NM_001142805.1:c.1192_1194del	NP_001136277.1:p.Phe398del
NM_001142806.1:c.877_879del	NP_001136278.1:p.Phe293del
NM_005629.3:c.1222_1224del	NP_005620.1:p.Phe408del
NM_005629.4:c.1222_1224del MANE Select	NP_005620.1:p.Phe408del
NM_001142805.2:c.1192_1194del	NP_001136277.1:p.Phe398del