Canonical Allele Identifier: CA2695039085

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694083-GGGGTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694087_153694093del , CM000685.2:g.153694087_153694093del	GRCh38
NC_000023.10:g.152959542_152959548del , CM000685.1:g.152959542_152959548del	GRCh37
NC_000023.9:g.152612736_152612742del	NCBI36
NG_012016.1:g.10791_10797del
NG_012016.2:g.10791_10797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-43_1255-37del MANE Select	ENSP00000253122.5:n.1255-43_1255-37del
ENST00000253122.9:c.1255-43_1255-37del	ENSP00000253122.5:n.1255-43_1255-37del
ENST00000413787.1:c.258-117_258-111del	ENSP00000400463.1:n.258-117_258-111del
ENST00000430077.6:c.910-43_910-37del	ENSP00000403041.2:n.910-43_910-37del
ENST00000442457.1:c.309-43_309-37del
ENST00000457723.1:c.239-50_239-44del	ENSP00000394742.1:n.239-50_239-44del
ENST00000485324.1:n.1357_1363del
NM_001142805.1:c.1225-43_1225-37del	NP_001136277.1:n.1225-43_1225-37del
NM_001142806.1:c.910-43_910-37del	NP_001136278.1:n.910-43_910-37del
NM_005629.3:c.1255-43_1255-37del	NP_005620.1:n.1255-43_1255-37del
NM_005629.4:c.1255-43_1255-37del MANE Select	NP_005620.1:n.1255-43_1255-37del
NM_001142805.2:c.1225-43_1225-37del	NP_001136277.1:n.1225-43_1225-37del