Canonical Allele Identifier: CA2695039132

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694124-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694127_153694128del , CM000685.2:g.153694127_153694128del	GRCh38
NC_000023.10:g.152959582_152959583del , CM000685.1:g.152959582_152959583del	GRCh37
NC_000023.9:g.152612776_152612777del	NCBI36
NG_012016.1:g.10831_10832del
NG_012016.2:g.10831_10832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-3_1255-2del MANE Select	ENSP00000253122.5:n.1255-3_1255-2del
ENST00000253122.9:c.1255-3_1255-2del	ENSP00000253122.5:n.1255-3_1255-2del
ENST00000413787.1:c.258-77_258-76del	ENSP00000400463.1:n.258-77_258-76del
ENST00000430077.6:c.910-3_910-2del	ENSP00000403041.2:n.910-3_910-2del
ENST00000442457.1:c.309-3_309-2del
ENST00000457723.1:c.239-10_239-9del	ENSP00000394742.1:n.239-10_239-9del
ENST00000485324.1:n.1397_1398del
NM_001142805.1:c.1225-3_1225-2del	NP_001136277.1:n.1225-3_1225-2del
NM_001142806.1:c.910-3_910-2del	NP_001136278.1:n.910-3_910-2del
NM_005629.3:c.1255-3_1255-2del	NP_005620.1:n.1255-3_1255-2del
NM_005629.4:c.1255-3_1255-2del MANE Select	NP_005620.1:n.1255-3_1255-2del
NM_001142805.2:c.1225-3_1225-2del	NP_001136277.1:n.1225-3_1225-2del