Canonical Allele Identifier: CA2613837522

Gene: TMEM216

Linked Data

• gnomAD v4: 11-61393814-C-CAGACAAGAACTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393814_61393815insAGACAAGAACTGT , CM000673.2:g.61393814_61393815insAGACAAGAACTGT	GRCh38
NC_000011.9:g.61161286_61161287insAGACAAGAACTGT , CM000673.1:g.61161286_61161287insAGACAAGAACTGT	GRCh37
NC_000011.8:g.60917862_60917863insAGACAAGAACTGT	NCBI36
NG_032976.1:g.6455_6456insAGACAAGAACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.137-70_137-69insAGACAAGAACTGT	ENSP00000334844.5:n.137-70_137-69insAGACAAGAACTGT
ENST00000544795.6:n.414-70_414-69insAGACAAGAACTGT
ENST00000684926.1:n.153-70_153-69insAGACAAGAACTGT
ENST00000688959.1:c.-123-70_-123-69insAGACAAGAACTGT	ENSP00000509213.1:n.-123-70_-123-69insAGACAAGAACTGT
ENST00000690736.1:c.137-70_137-69insAGACAAGAACTGT	ENSP00000508542.1:n.137-70_137-69insAGACAAGAACTGT
ENST00000515837.7:c.137-70_137-69insAGACAAGAACTGT MANE Select	ENSP00000440638.1:n.137-70_137-69insAGACAAGAACTGT
ENST00000334888.9:c.137-70_137-69insAGACAAGAACTGT	ENSP00000334844.5:n.137-70_137-69insAGACAAGAACTGT
ENST00000398979.7:c.-47-70_-47-69insAGACAAGAACTGT	ENSP00000381950.3:n.-47-70_-47-69insAGACAAGAACTGT
ENST00000515837.6:c.137-70_137-69insAGACAAGAACTGT	ENSP00000440638.1:n.137-70_137-69insAGACAAGAACTGT
ENST00000541473.1:n.151-70_151-69insAGACAAGAACTGT
ENST00000544795.5:n.153-70_153-69insAGACAAGAACTGT
NM_001173990.2:c.137-70_137-69insAGACAAGAACTGT	NP_001167461.1:n.137-70_137-69insAGACAAGAACTGT
NM_001173991.2:c.137-70_137-69insAGACAAGAACTGT	NP_001167462.1:n.137-70_137-69insAGACAAGAACTGT
NM_016499.5:c.-47-70_-47-69insAGACAAGAACTGT	NP_057583.2:n.-47-70_-47-69insAGACAAGAACTGT
XM_005274039.3:c.-47-70_-47-69insAGACAAGAACTGT	XP_005274096.1:n.-47-70_-47-69insAGACAAGAACTGT
NM_001330285.1:c.-47-70_-47-69insAGACAAGAACTGT	NP_001317214.1:n.-47-70_-47-69insAGACAAGAACTGT
XM_005274039.4:c.-47-70_-47-69insAGACAAGAACTGT	XP_005274096.1:n.-47-70_-47-69insAGACAAGAACTGT
NM_001173990.3:c.137-70_137-69insAGACAAGAACTGT MANE Select	NP_001167461.1:n.137-70_137-69insAGACAAGAACTGT
NM_001173991.3:c.137-70_137-69insAGACAAGAACTGT	NP_001167462.1:n.137-70_137-69insAGACAAGAACTGT
NM_001330285.2:c.-47-70_-47-69insAGACAAGAACTGT	NP_001317214.1:n.-47-70_-47-69insAGACAAGAACTGT
NM_016499.6:c.-47-70_-47-69insAGACAAGAACTGT	NP_057583.2:n.-47-70_-47-69insAGACAAGAACTGT