Canonical Allele Identifier: CA2579729528
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694278_153694282del , CM000685.2:g.153694278_153694282del GRCh38
NC_000023.10:g.152959733_152959737del , CM000685.1:g.152959733_152959737del GRCh37
NC_000023.9:g.152612927_152612931del NCBI36
NG_012016.1:g.10982_10986del
NG_012016.2:g.10982_10986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1392+11_1392+15del MANE Select ENSP00000253122.5:n.1392+11_1392+15del
ENST00000253122.9:c.1392+11_1392+15del ENSP00000253122.5:n.1392+11_1392+15del
ENST00000413787.1:c.321+11_321+15del ENSP00000400463.1:n.321+11_321+15del
ENST00000430077.6:c.1047+11_1047+15del ENSP00000403041.2:n.1047+11_1047+15del
ENST00000442457.1:c.446+11_446+15del
ENST00000485324.1:n.1548_1552del
NM_001142805.1:c.1362+11_1362+15del NP_001136277.1:n.1362+11_1362+15del
NM_001142806.1:c.1047+11_1047+15del NP_001136278.1:n.1047+11_1047+15del
NM_005629.3:c.1392+11_1392+15del NP_005620.1:n.1392+11_1392+15del
NM_005629.4:c.1392+11_1392+15del MANE Select NP_005620.1:n.1392+11_1392+15del
NM_001142805.2:c.1362+11_1362+15del NP_001136277.1:n.1362+11_1362+15del