Canonical Allele Identifier: CA2466438137

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694038_153694040delinsCAG , CM000685.2:g.153694038_153694040delinsCAG	GRCh38
NC_000023.10:g.152959493_152959495delinsCAG , CM000685.1:g.152959493_152959495delinsCAG	GRCh37
NC_000023.9:g.152612687_152612689delinsCAG	NCBI36
NG_012016.1:g.10742_10744delinsCAG
NG_012016.2:g.10742_10744delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1254+21_1254+23delinsCAG MANE Select	ENSP00000253122.5:n.1254+21_1254+23delinsCAG
ENST00000253122.9:c.1254+21_1254+23delinsCAG	ENSP00000253122.5:n.1254+21_1254+23delinsCAG
ENST00000413787.1:c.258-166_258-164delinsCAG	ENSP00000400463.1:n.258-166_258-164delinsCAG
ENST00000430077.6:c.909+21_909+23delinsCAG	ENSP00000403041.2:n.909+21_909+23delinsCAG
ENST00000442457.1:c.308+21_308+23delinsCAG
ENST00000457723.1:c.238+21_238+23delinsCAG	ENSP00000394742.1:n.238+21_238+23delinsCAG
ENST00000485324.1:n.1308_1310delinsCAG
NM_001142805.1:c.1224+21_1224+23delinsCAG	NP_001136277.1:n.1224+21_1224+23delinsCAG
NM_001142806.1:c.909+21_909+23delinsCAG	NP_001136278.1:n.909+21_909+23delinsCAG
NM_005629.3:c.1254+21_1254+23delinsCAG	NP_005620.1:n.1254+21_1254+23delinsCAG
NM_005629.4:c.1254+21_1254+23delinsCAG MANE Select	NP_005620.1:n.1254+21_1254+23delinsCAG
NM_001142805.2:c.1224+21_1224+23delinsCAG	NP_001136277.1:n.1224+21_1224+23delinsCAG