Canonical Allele Identifier: CA2579729529

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694287_153694289del , CM000685.2:g.153694287_153694289del	GRCh38
NC_000023.10:g.152959742_152959744del , CM000685.1:g.152959742_152959744del	GRCh37
NC_000023.9:g.152612936_152612938del	NCBI36
NG_012016.1:g.10991_10993del
NG_012016.2:g.10991_10993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+20_1392+22del MANE Select	ENSP00000253122.5:n.1392+20_1392+22del
ENST00000253122.9:c.1392+20_1392+22del	ENSP00000253122.5:n.1392+20_1392+22del
ENST00000413787.1:c.321+20_321+22del	ENSP00000400463.1:n.321+20_321+22del
ENST00000430077.6:c.1047+20_1047+22del	ENSP00000403041.2:n.1047+20_1047+22del
ENST00000442457.1:c.446+20_446+22del
ENST00000485324.1:n.1557_1559del
NM_001142805.1:c.1362+20_1362+22del	NP_001136277.1:n.1362+20_1362+22del
NM_001142806.1:c.1047+20_1047+22del	NP_001136278.1:n.1047+20_1047+22del
NM_005629.3:c.1392+20_1392+22del	NP_005620.1:n.1392+20_1392+22del
NM_005629.4:c.1392+20_1392+22del MANE Select	NP_005620.1:n.1392+20_1392+22del
NM_001142805.2:c.1362+20_1362+22del	NP_001136277.1:n.1362+20_1362+22del