Canonical Allele Identifier: CA16041471
Gene: TMEM216 HGNC NCBI

Linked Data

ClinVar Variation Id: 371759
dbSNP Id: rs1057517512

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393969del , CM000673.2:g.61393969del GRCh38
NC_000011.9:g.61161441del , CM000673.1:g.61161441del GRCh37
NC_000011.8:g.60918017del NCBI36
NG_032976.1:g.6610del

Transcript Alleles

HGVS Amino-acid change
ENST00000334888.10:c.222del ENSP00000334844.5:p.Phe76LeufsTer20
ENST00000544795.6:n.499del
ENST00000684926.1:n.238del
ENST00000688959.1:c.-38del ENSP00000509213.1:n.-38del
ENST00000690736.1:c.222del ENSP00000508542.1:p.Phe76LeufsTer9
ENST00000515837.7:c.222del MANE Select ENSP00000440638.1:p.Phe76LeufsTer20
ENST00000334888.9:c.222del ENSP00000334844.5:p.Phe76LeufsTer20
ENST00000398979.7:c.39del ENSP00000381950.3:p.Phe15LeufsTer20
ENST00000515837.6:c.222del ENSP00000440638.1:p.Phe76LeufsTer20
ENST00000541473.1:n.236del
ENST00000544795.5:n.238del
NM_001173990.2:c.222del NP_001167461.1:p.Phe76LeufsTer20
NM_001173991.2:c.222del NP_001167462.1:p.Phe76LeufsTer20
NM_016499.5:c.39del NP_057583.2:p.Phe15LeufsTer20
XM_005274039.3:c.39del XP_005274096.1:p.Phe15LeufsTer20
NM_001330285.1:c.39del NP_001317214.1:p.Phe15LeufsTer20
XM_005274039.4:c.39del XP_005274096.1:p.Phe15LeufsTer20
NM_001173990.3:c.222del MANE Select NP_001167461.1:p.Phe76LeufsTer20
NM_001173991.3:c.222del NP_001167462.1:p.Phe76LeufsTer20
NM_001330285.2:c.39del NP_001317214.1:p.Phe15LeufsTer20
NM_016499.6:c.39del NP_057583.2:p.Phe15LeufsTer20