Canonical Allele Identifier: CA2695038885

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693951-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693953del , CM000685.2:g.153693953del	GRCh38
NC_000023.10:g.152959408del , CM000685.1:g.152959408del	GRCh37
NC_000023.9:g.152612602del	NCBI36
NG_012016.1:g.10657del
NG_012016.2:g.10657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1190del MANE Select	ENSP00000253122.5:p.Pro397GlnfsTer24
ENST00000253122.9:c.1190del	ENSP00000253122.5:p.Pro397GlnfsTer24
ENST00000413787.1:c.258-251del	ENSP00000400463.1:n.258-251del
ENST00000430077.6:c.845del	ENSP00000403041.2:p.Pro282GlnfsTer24
ENST00000442457.1:c.244del
ENST00000457723.1:c.174del	ENSP00000394742.1:p.Ser59ValfsTer?
ENST00000467402.1:n.289del
ENST00000485324.1:n.1223del
NM_001142805.1:c.1160del	NP_001136277.1:p.Pro387GlnfsTer24
NM_001142806.1:c.845del	NP_001136278.1:p.Pro282GlnfsTer24
NM_005629.3:c.1190del	NP_005620.1:p.Pro397GlnfsTer24
NM_005629.4:c.1190del MANE Select	NP_005620.1:p.Pro397GlnfsTer24
NM_001142805.2:c.1160del	NP_001136277.1:p.Pro387GlnfsTer24