Canonical Allele Identifier: CA519185157

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152955985_152955986del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690530_153690531del , CM000685.2:g.153690530_153690531del	GRCh38
NC_000023.10:g.152955985_152955986del , CM000685.1:g.152955985_152955986del	GRCh37
NC_000023.9:g.152609179_152609180del	NCBI36
NG_012016.1:g.7234_7235del
NG_012016.2:g.7234_7235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+24_394+25del MANE Select	ENSP00000253122.5:n.394+24_394+25del
ENST00000675713.1:n.148+24_148+25del
ENST00000253122.9:c.394+24_394+25del	ENSP00000253122.5:n.394+24_394+25del
ENST00000430077.6:c.49+24_49+25del	ENSP00000403041.2:n.49+24_49+25del
ENST00000476466.1:n.270_271del
NM_001142805.1:c.394+24_394+25del	NP_001136277.1:n.394+24_394+25del
NM_001142806.1:c.49+24_49+25del	NP_001136278.1:n.49+24_49+25del
NM_005629.3:c.394+24_394+25del	NP_005620.1:n.394+24_394+25del
NM_005629.4:c.394+24_394+25del MANE Select	NP_005620.1:n.394+24_394+25del
NM_001142805.2:c.394+24_394+25del	NP_001136277.1:n.394+24_394+25del