Canonical Allele Identifier: CA2579729498

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693973-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693976del , CM000685.2:g.153693976del	GRCh38
NC_000023.10:g.152959431del , CM000685.1:g.152959431del	GRCh37
NC_000023.9:g.152612625del	NCBI36
NG_012016.1:g.10680del
NG_012016.2:g.10680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1213del MANE Select	ENSP00000253122.5:p.Leu405CysfsTer16
ENST00000253122.9:c.1213del	ENSP00000253122.5:p.Leu405CysfsTer16
ENST00000413787.1:c.258-228del	ENSP00000400463.1:n.258-228del
ENST00000430077.6:c.868del	ENSP00000403041.2:p.Leu290CysfsTer16
ENST00000442457.1:c.267del
ENST00000457723.1:c.197del	ENSP00000394742.1:p.Pro66LeufsTer?
ENST00000485324.1:n.1246del
NM_001142805.1:c.1183del	NP_001136277.1:p.Leu395CysfsTer16
NM_001142806.1:c.868del	NP_001136278.1:p.Leu290CysfsTer16
NM_005629.3:c.1213del	NP_005620.1:p.Leu405CysfsTer16
NM_005629.4:c.1213del MANE Select	NP_005620.1:p.Leu405CysfsTer16
NM_001142805.2:c.1183del	NP_001136277.1:p.Leu395CysfsTer16