Canonical Allele Identifier: CA2695039354

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694299-CTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694303_153694305del , CM000685.2:g.153694303_153694305del	GRCh38
NC_000023.10:g.152959758_152959760del , CM000685.1:g.152959758_152959760del	GRCh37
NC_000023.9:g.152612952_152612954del	NCBI36
NG_012016.1:g.11007_11009del
NG_012016.2:g.11007_11009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+36_1393-39del MANE Select	ENSP00000253122.5:n.1392+36_1393-39del
ENST00000253122.9:c.1392+36_1393-39del	ENSP00000253122.5:n.1392+36_1393-39del
ENST00000413787.1:c.321+36_322-39del	ENSP00000400463.1:n.321+36_322-39del
ENST00000430077.6:c.1047+36_1048-39del	ENSP00000403041.2:n.1047+36_1048-39del
ENST00000442457.1:c.446+36_447-39del
ENST00000485324.1:n.1573_1575del
NM_001142805.1:c.1362+36_1363-39del	NP_001136277.1:n.1362+36_1363-39del
NM_001142806.1:c.1047+36_1048-39del	NP_001136278.1:n.1047+36_1048-39del
NM_005629.3:c.1392+36_1393-39del	NP_005620.1:n.1392+36_1393-39del
NM_005629.4:c.1392+36_1393-39del MANE Select	NP_005620.1:n.1392+36_1393-39del
NM_001142805.2:c.1362+36_1363-39del	NP_001136277.1:n.1362+36_1363-39del