Canonical Allele Identifier: CA1139667845

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 966448
• ClinVar RCV Id: RCV001241124
• dbSNP Id: rs2091469248

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693485_153693489delinsAAGA , CM000685.2:g.153693485_153693489delinsAAGA	GRCh38
NC_000023.10:g.152958940_152958944delinsAAGA , CM000685.1:g.152958940_152958944delinsAAGA	GRCh37
NC_000023.9:g.152612134_152612138delinsAAGA	NCBI36
NG_012016.1:g.10189_10193delinsAAGA
NG_012016.2:g.10189_10193delinsAAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1040_1044delinsAAGA MANE Select	ENSP00000253122.5:p.Ile347LysfsTer?
ENST00000253122.9:c.1040_1044delinsAAGA	ENSP00000253122.5:p.Ile347LysfsTer?
ENST00000413787.1:c.163-7_163-3delinsAAGA	ENSP00000400463.1:n.163-7_163-3delinsAAGA...
ENST00000430077.6:c.695_699delinsAAGA	ENSP00000403041.2:p.Ile232LysfsTer?
ENST00000442457.1:c.101-7_101-3delinsAAGA
ENST00000457723.1:c.24_28delinsAAGA	ENSP00000394742.1:p.His8GlnfsTer?
ENST00000467402.1:n.146-7_146-3delinsAAGA
ENST00000485324.1:n.1073_1077delinsAAGA
NM_001142805.1:c.1017-7_1017-3delinsAAGA	NP_001136277.1:n.1017-7_1017-3delinsAAGA
NM_001142806.1:c.695_699delinsAAGA	NP_001136278.1:p.Ile232LysfsTer?
NM_005629.3:c.1040_1044delinsAAGA	NP_005620.1:p.Ile347LysfsTer?
NM_005629.4:c.1040_1044delinsAAGA MANE Select	NP_005620.1:p.Ile347LysfsTer?
NM_001142805.2:c.1017-7_1017-3delinsAAGA	NP_001136277.1:n.1017-7_1017-3delinsAAGA