Canonical Allele Identifier: CA873260324

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1378116130
• MyVariant Identifiers: chrX:g.153694317_153694320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694320_153694323del , CM000685.2:g.153694320_153694323del	GRCh38
NC_000023.10:g.152959775_152959778del , CM000685.1:g.152959775_152959778del	GRCh37
NC_000023.9:g.152612969_152612972del	NCBI36
NG_012016.1:g.11024_11027del
NG_012016.2:g.11024_11027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1393-24_1393-21del MANE Select	ENSP00000253122.5:n.1393-24_1393-21del
ENST00000253122.9:c.1393-24_1393-21del	ENSP00000253122.5:n.1393-24_1393-21del
ENST00000413787.1:c.322-24_322-21del	ENSP00000400463.1:n.322-24_322-21del
ENST00000430077.6:c.1048-24_1048-21del	ENSP00000403041.2:n.1048-24_1048-21del
ENST00000442457.1:c.447-24_447-21del
ENST00000485324.1:n.1590_1593del
NM_001142805.1:c.1363-24_1363-21del	NP_001136277.1:n.1363-24_1363-21del
NM_001142806.1:c.1048-24_1048-21del	NP_001136278.1:n.1048-24_1048-21del
NM_005629.3:c.1393-24_1393-21del	NP_005620.1:n.1393-24_1393-21del
NM_005629.4:c.1393-24_1393-21del MANE Select	NP_005620.1:n.1393-24_1393-21del
NM_001142805.2:c.1363-24_1363-21del	NP_001136277.1:n.1363-24_1363-21del