Canonical Allele Identifier: CA2695038638
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690339_153690340del , CM000685.2:g.153690339_153690340del GRCh38
NC_000023.10:g.152955794_152955795del , CM000685.1:g.152955794_152955795del GRCh37
NC_000023.9:g.152608988_152608989del NCBI36
NG_012016.1:g.7043_7044del
NG_012016.2:g.7043_7044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.263-36_263-35del MANE Select ENSP00000253122.5:n.263-36_263-35del
ENST00000253122.9:c.263-36_263-35del ENSP00000253122.5:n.263-36_263-35del
ENST00000430077.6:c.-83-36_-83-35del ENSP00000403041.2:n.-83-36_-83-35del
ENST00000476466.1:n.115-36_115-35del
NM_001142805.1:c.263-36_263-35del NP_001136277.1:n.263-36_263-35del
NM_001142806.1:c.-83-36_-83-35del NP_001136278.1:n.-83-36_-83-35del
NM_005629.3:c.263-36_263-35del NP_005620.1:n.263-36_263-35del
NM_005629.4:c.263-36_263-35del MANE Select NP_005620.1:n.263-36_263-35del
NM_001142805.2:c.263-36_263-35del NP_001136277.1:n.263-36_263-35del