Canonical Allele Identifier: CA16041472
Gene: TMEM216 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371763
dbSNP Id: rs1057517516

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393975del , CM000673.2:g.61393975del GRCh38
NC_000011.8:g.60918023del NCBI36
NC_000011.9:g.61161447del , CM000673.1:g.61161447del GRCh37
NG_032976.1:g.6616del

Transcript Alleles

HGVS Amino-acid change
ENST00000334888.9:c.228del ENSP00000334844.5:p.Phe76LeufsTer20
ENST00000398979.7:c.45del ENSP00000381950.3:p.Phe15LeufsTer20
ENST00000515837.6:c.228del ENSP00000440638.1:p.Phe76LeufsTer20
ENST00000541473.1:n.242del
ENST00000544795.5:n.244del
NM_001173990.2:c.228del VV NP_001167461.1:p.Phe76LeufsTer20
NM_001173991.2:c.228del VV NP_001167462.1:p.Phe76LeufsTer20
NM_016499.5:c.45del VV NP_057583.2:p.Phe15LeufsTer20
XM_005274039.3:c.45del XP_005274096.1:p.Phe15LeufsTer20