Canonical Allele Identifier: CA2695200226

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 2679223
• ClinVar RCV Id: RCV003464693

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393969_61393979delinsTTTTTTTGTT , CM000673.2:g.61393969_61393979delinsTTTTTTTGTT	GRCh38
NC_000011.9:g.61161441_61161451delinsTTTTTTTGTT , CM000673.1:g.61161441_61161451delinsTTTTTTTGTT	GRCh37
NC_000011.8:g.60918017_60918027delinsTTTTTTTGTT	NCBI36
NG_032976.1:g.6610_6620delinsTTTTTTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.222_229+3delinsTTTTTTTGTT
ENST00000544795.6:n.499_506+3delinsTTTTTTTGTT
ENST00000684926.1:n.238_245+3delinsTTTTTTTGTT
ENST00000688959.1:c.-38_-28delinsTTTTTTTGTT	ENSP00000509213.1:n.-38_-28delinsTTTTTTTGTT
ENST00000690736.1:c.222_229+3delinsTTTTTTTGTT
ENST00000515837.7:c.222_229+3delinsTTTTTTTGTT
ENST00000334888.9:c.222_229+3delinsTTTTTTTGTT
ENST00000398979.7:c.39_46+3delinsTTTTTTTGTT
ENST00000515837.6:c.222_229+3delinsTTTTTTTGTT
ENST00000541473.1:n.236_246delinsTTTTTTTGTT
ENST00000544795.5:n.238_245+3delinsTTTTTTTGTT
NM_001173990.2:c.222_229+3delinsTTTTTTTGTT
NM_001173991.2:c.222_229+3delinsTTTTTTTGTT
NM_016499.5:c.39_46+3delinsTTTTTTTGTT
XM_005274039.3:c.39_46+3delinsTTTTTTTGTT
NM_001330285.1:c.39_46+3delinsTTTTTTTGTT
XM_005274039.4:c.39_46+3delinsTTTTTTTGTT
NM_001173990.3:c.222_229+3delinsTTTTTTTGTT
NM_001173991.3:c.222_229+3delinsTTTTTTTGTT
NM_001330285.2:c.39_46+3delinsTTTTTTTGTT
NM_016499.6:c.39_46+3delinsTTTTTTTGTT