Canonical Allele Identifier: CA658822741

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397882dup , CM000673.2:g.61397882dup	GRCh38
NC_000011.9:g.61165354dup , CM000673.1:g.61165354dup	GRCh37
NC_000011.8:g.60921930dup	NCBI36
NG_032976.1:g.10523dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.338dup	ENSP00000334844.5:p.Leu114ThrfsTer22
ENST00000544795.6:n.661dup
ENST00000684926.1:n.400dup
ENST00000688959.1:c.80dup	ENSP00000509213.1:p.Leu28ThrfsTer22
ENST00000690736.1:c.*63dup	ENSP00000508542.1:n.*63dup
ENST00000515837.7:c.338dup MANE Select	ENSP00000440638.1:p.Leu114ThrfsTer22
ENST00000334888.9:c.338dup	ENSP00000334844.5:p.Leu114ThrfsTer22
ENST00000398979.7:c.155dup	ENSP00000381950.3:p.Leu53ThrfsTer22
ENST00000515837.6:c.338dup	ENSP00000440638.1:p.Leu114ThrfsTer22
ENST00000544795.5:n.400dup
NM_001173990.2:c.338dup	NP_001167461.1:p.Leu114ThrfsTer22
NM_001173991.2:c.338dup	NP_001167462.1:p.Leu114ThrfsTer22
NM_016499.5:c.155dup	NP_057583.2:p.Leu53ThrfsTer22
XM_005274039.3:c.155dup	XP_005274096.1:p.Leu53ThrfsTer22
NM_001330285.1:c.155dup	NP_001317214.1:p.Leu53ThrfsTer22
XM_005274039.4:c.155dup	XP_005274096.1:p.Leu53ThrfsTer22
NM_001173990.3:c.338dup MANE Select	NP_001167461.1:p.Leu114ThrfsTer22
NM_001173991.3:c.338dup	NP_001167462.1:p.Leu114ThrfsTer22
NM_001330285.2:c.155dup	NP_001317214.1:p.Leu53ThrfsTer22
NM_016499.6:c.155dup	NP_057583.2:p.Leu53ThrfsTer22