Canonical Allele Identifier: CA678971621

Gene: TMEM216

Linked Data

• dbSNP Id: rs1461567862
• gnomAD v3: 11-61393967-CTG-C
• gnomAD v4: 11-61393967-CTG-C
• MyVariant Identifiers: chr11:g.61161440_61161441del (hg19) ; chr11:g.61393968_61393969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393969_61393970del , CM000673.2:g.61393969_61393970del	GRCh38
NC_000011.9:g.61161441_61161442del , CM000673.1:g.61161441_61161442del	GRCh37
NC_000011.8:g.60918017_60918018del	NCBI36
NG_032976.1:g.6610_6611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.222_223del	ENSP00000334844.5:p.Phe76TrpfsTer16
ENST00000544795.6:n.499_500del
ENST00000684926.1:n.238_239del
ENST00000688959.1:c.-38_-37del	ENSP00000509213.1:n.-38_-37del
ENST00000690736.1:c.222_223del	ENSP00000508542.1:p.Phe76TrpfsTer15
ENST00000515837.7:c.222_223del MANE Select	ENSP00000440638.1:p.Phe76TrpfsTer16
ENST00000334888.9:c.222_223del	ENSP00000334844.5:p.Phe76TrpfsTer16
ENST00000398979.7:c.39_40del	ENSP00000381950.3:p.Phe15TrpfsTer16
ENST00000515837.6:c.222_223del	ENSP00000440638.1:p.Phe76TrpfsTer16
ENST00000541473.1:n.236_237del
ENST00000544795.5:n.238_239del
NM_001173990.2:c.222_223del	NP_001167461.1:p.Phe76TrpfsTer16
NM_001173991.2:c.222_223del	NP_001167462.1:p.Phe76TrpfsTer16
NM_016499.5:c.39_40del	NP_057583.2:p.Phe15TrpfsTer16
XM_005274039.3:c.39_40del	XP_005274096.1:p.Phe15TrpfsTer16
NM_001330285.1:c.39_40del	NP_001317214.1:p.Phe15TrpfsTer16
XM_005274039.4:c.39_40del	XP_005274096.1:p.Phe15TrpfsTer16
NM_001173990.3:c.222_223del MANE Select	NP_001167461.1:p.Phe76TrpfsTer16
NM_001173991.3:c.222_223del	NP_001167462.1:p.Phe76TrpfsTer16
NM_001330285.2:c.39_40del	NP_001317214.1:p.Phe15TrpfsTer16
NM_016499.6:c.39_40del	NP_057583.2:p.Phe15TrpfsTer16