Canonical Allele Identifier: CA2466438138

Gene: SLC6A8

Linked Data

• dbSNP Id: rs2091473163
• gnomAD v4: X-153694038-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694039_153694040del , CM000685.2:g.153694039_153694040del	GRCh38
NC_000023.10:g.152959494_152959495del , CM000685.1:g.152959494_152959495del	GRCh37
NC_000023.9:g.152612688_152612689del	NCBI36
NG_012016.1:g.10743_10744del
NG_012016.2:g.10743_10744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1254+22_1254+23del MANE Select	ENSP00000253122.5:n.1254+22_1254+23del
ENST00000253122.9:c.1254+22_1254+23del	ENSP00000253122.5:n.1254+22_1254+23del
ENST00000413787.1:c.258-165_258-164del	ENSP00000400463.1:n.258-165_258-164del
ENST00000430077.6:c.909+22_909+23del	ENSP00000403041.2:n.909+22_909+23del
ENST00000442457.1:c.308+22_308+23del
ENST00000457723.1:c.238+22_238+23del	ENSP00000394742.1:n.238+22_238+23del
ENST00000485324.1:n.1309_1310del
NM_001142805.1:c.1224+22_1224+23del	NP_001136277.1:n.1224+22_1224+23del
NM_001142806.1:c.909+22_909+23del	NP_001136278.1:n.909+22_909+23del
NM_005629.3:c.1254+22_1254+23del	NP_005620.1:n.1254+22_1254+23del
NM_005629.4:c.1254+22_1254+23del MANE Select	NP_005620.1:n.1254+22_1254+23del
NM_001142805.2:c.1224+22_1224+23del	NP_001136277.1:n.1224+22_1224+23del