Canonical Allele Identifier: CA2582121175

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 3066452
• ClinVar RCV Id: RCV003991456
• ERepo: CA2582121175/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694247_153694250del , CM000685.2:g.153694247_153694250del	GRCh38
NC_000023.10:g.152959702_152959705del , CM000685.1:g.152959702_152959705del	GRCh37
NC_000023.9:g.152612896_152612899del	NCBI36
NG_012016.1:g.10951_10954del
NG_012016.2:g.10951_10954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1372_1375del MANE Select	ENSP00000253122.5:p.Asp458SerfsTer4
ENST00000253122.9:c.1372_1375del	ENSP00000253122.5:p.Asp458SerfsTer4
ENST00000413787.1:c.301_304del	ENSP00000400463.1:p.Asp101SerfsTer4
ENST00000430077.6:c.1027_1030del	ENSP00000403041.2:p.Asp343SerfsTer4
ENST00000442457.1:c.426_429del
ENST00000485324.1:n.1517_1520del
NM_001142805.1:c.1342_1345del	NP_001136277.1:p.Asp448SerfsTer4
NM_001142806.1:c.1027_1030del	NP_001136278.1:p.Asp343SerfsTer4
NM_005629.3:c.1372_1375del	NP_005620.1:p.Asp458SerfsTer4
NM_005629.4:c.1372_1375del MANE Select	NP_005620.1:p.Asp458SerfsTer4
NM_001142805.2:c.1342_1345del	NP_001136277.1:p.Asp448SerfsTer4