Canonical Allele Identifier: CA2831038831

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393940_61393941delinsA , CM000673.2:g.61393940_61393941delinsA	GRCh38
NC_000011.9:g.61161412_61161413delinsA , CM000673.1:g.61161412_61161413delinsA	GRCh37
NC_000011.8:g.60917988_60917989delinsA	NCBI36
NG_032976.1:g.6581_6582delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.193_194delinsA	ENSP00000334844.5:p.Leu65IlefsTer7
ENST00000544795.6:n.470_471delinsA
ENST00000684926.1:n.209_210delinsA
ENST00000688959.1:c.-67_-66delinsA	ENSP00000509213.1:n.-67_-66delinsA
ENST00000690736.1:c.193_194delinsA	ENSP00000508542.1:p.Leu65IlefsTer7
ENST00000515837.7:c.193_194delinsA MANE Select	ENSP00000440638.1:p.Leu65IlefsTer7
ENST00000334888.9:c.193_194delinsA	ENSP00000334844.5:p.Leu65IlefsTer7
ENST00000398979.7:c.10_11delinsA	ENSP00000381950.3:p.Leu4IlefsTer7
ENST00000515837.6:c.193_194delinsA	ENSP00000440638.1:p.Leu65IlefsTer7
ENST00000541473.1:n.207_208delinsA
ENST00000544795.5:n.209_210delinsA
NM_001173990.2:c.193_194delinsA	NP_001167461.1:p.Leu65IlefsTer7
NM_001173991.2:c.193_194delinsA	NP_001167462.1:p.Leu65IlefsTer7
NM_016499.5:c.10_11delinsA	NP_057583.2:p.Leu4IlefsTer7
XM_005274039.3:c.10_11delinsA	XP_005274096.1:p.Leu4IlefsTer7
NM_001330285.1:c.10_11delinsA	NP_001317214.1:p.Leu4IlefsTer7
XM_005274039.4:c.10_11delinsA	XP_005274096.1:p.Leu4IlefsTer7
NM_001173990.3:c.193_194delinsA MANE Select	NP_001167461.1:p.Leu65IlefsTer7
NM_001173991.3:c.193_194delinsA	NP_001167462.1:p.Leu65IlefsTer7
NM_001330285.2:c.10_11delinsA	NP_001317214.1:p.Leu4IlefsTer7
NM_016499.6:c.10_11delinsA	NP_057583.2:p.Leu4IlefsTer7