Canonical Allele Identifier: CA1977297049

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393967_61393969delinsCTG , CM000673.2:g.61393967_61393969delinsCTG	GRCh38
NC_000011.9:g.61161439_61161441delinsCTG , CM000673.1:g.61161439_61161441delinsCTG	GRCh37
NC_000011.8:g.60918015_60918017delinsCTG	NCBI36
NG_032976.1:g.6608_6610delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.220_222delinsCTG	ENSP00000334844.5:p.Leu74=
ENST00000544795.6:n.497_499delinsCTG
ENST00000684926.1:n.236_238delinsCTG
ENST00000688959.1:c.-40_-38delinsCTG	ENSP00000509213.1:n.-40_-38delinsCTG
ENST00000690736.1:c.220_222delinsCTG	ENSP00000508542.1:p.Leu74=
ENST00000515837.7:c.220_222delinsCTG MANE Select	ENSP00000440638.1:p.Leu74=
ENST00000334888.9:c.220_222delinsCTG	ENSP00000334844.5:p.Leu74=
ENST00000398979.7:c.37_39delinsCTG	ENSP00000381950.3:p.Leu13=
ENST00000515837.6:c.220_222delinsCTG	ENSP00000440638.1:p.Leu74=
ENST00000541473.1:n.234_236delinsCTG
ENST00000544795.5:n.236_238delinsCTG
NM_001173990.2:c.220_222delinsCTG	NP_001167461.1:p.Leu74=
NM_001173991.2:c.220_222delinsCTG	NP_001167462.1:p.Leu74=
NM_016499.5:c.37_39delinsCTG	NP_057583.2:p.Leu13=
XM_005274039.3:c.37_39delinsCTG	XP_005274096.1:p.Leu13=
NM_001330285.1:c.37_39delinsCTG	NP_001317214.1:p.Leu13=
XM_005274039.4:c.37_39delinsCTG	XP_005274096.1:p.Leu13=
NM_001173990.3:c.220_222delinsCTG MANE Select	NP_001167461.1:p.Leu74=
NM_001173991.3:c.220_222delinsCTG	NP_001167462.1:p.Leu74=
NM_001330285.2:c.37_39delinsCTG	NP_001317214.1:p.Leu13=
NM_016499.6:c.37_39delinsCTG	NP_057583.2:p.Leu13=