Canonical Allele Identifier: CA2466438208

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694162_153694173delinsCCTCGACCTCCT , CM000685.2:g.153694162_153694173delinsCCTCGACCTCCT	GRCh38
NC_000023.10:g.152959617_152959628delinsCCTCGACCTCCT , CM000685.1:g.152959617_152959628delinsCCTCGACCTCCT	GRCh37
NC_000023.9:g.152612811_152612822delinsCCTCGACCTCCT	NCBI36
NG_012016.1:g.10866_10877delinsCCTCGACCTCCT
NG_012016.2:g.10866_10877delinsCCTCGACCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1287_1298delinsCCTCGACCTCCT MANE Select	ENSP00000253122.5:p.Leu429=
ENST00000253122.9:c.1287_1298delinsCCTCGACCTCCT	ENSP00000253122.5:p.Leu429=
ENST00000413787.1:c.258-42_258-31delinsCCTCGACCTCCT	ENSP00000400463.1:n.258-42_258-31delinsCCTCGACCTCCT
ENST00000430077.6:c.942_953delinsCCTCGACCTCCT	ENSP00000403041.2:p.Leu314=
ENST00000442457.1:c.341_352delinsCCTCGACCTCCT
ENST00000485324.1:n.1432_1443delinsCCTCGACCTCCT
NM_001142805.1:c.1257_1268delinsCCTCGACCTCCT	NP_001136277.1:p.Leu419=
NM_001142806.1:c.942_953delinsCCTCGACCTCCT	NP_001136278.1:p.Leu314=
NM_005629.3:c.1287_1298delinsCCTCGACCTCCT	NP_005620.1:p.Leu429=
NM_005629.4:c.1287_1298delinsCCTCGACCTCCT MANE Select	NP_005620.1:p.Leu429=
NM_001142805.2:c.1257_1268delinsCCTCGACCTCCT	NP_001136277.1:p.Leu419=