Canonical Allele Identifier: CA16041472

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 371763
• ClinVar RCV Id: RCV000410191 ; RCV000412251
• dbSNP Id: rs767384710
• gnomAD v4: 11-61393969-GT-G
• MyVariant Identifiers: chr11:g.61161447del (hg19) ; chr11:g.61393975del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.228del	ENSP00000334844.5:p.Phe76LeufsTer20
ENST00000544795.6:n.505del
ENST00000684926.1:n.244del
ENST00000688959.1:c.-32del	ENSP00000509213.1:n.-32del
ENST00000690736.1:c.228del	ENSP00000508542.1:p.Phe76LeufsTer9
ENST00000515837.7:c.228del MANE Select	ENSP00000440638.1:p.Phe76LeufsTer20
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	NP_001167461.1:p.Phe76LeufsTer20
NM_001173991.2:c.228del	NP_001167462.1:p.Phe76LeufsTer20
NM_016499.5:c.45del	NP_057583.2:p.Phe15LeufsTer20
XM_005274039.3:c.45del	XP_005274096.1:p.Phe15LeufsTer20
NM_001330285.1:c.45del	NP_001317214.1:p.Phe15LeufsTer20
XM_005274039.4:c.45del	XP_005274096.1:p.Phe15LeufsTer20
NM_001173990.3:c.228del MANE Select	NP_001167461.1:p.Phe76LeufsTer20
NM_001173991.3:c.228del	NP_001167462.1:p.Phe76LeufsTer20
NM_001330285.2:c.45del	NP_001317214.1:p.Phe15LeufsTer20
NM_016499.6:c.45del	NP_057583.2:p.Phe15LeufsTer20