Canonical Allele Identifier: CA599503452

Gene: TMEM216

Linked Data

• dbSNP Id: rs1458992029
• gnomAD v2: 11-61161354-A-AG
• MyVariant Identifiers: chr11:g.61161354_61161355insG (hg19) ; chr11:g.61393882_61393883insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393884dup , CM000673.2:g.61393884dup	GRCh38
NC_000011.9:g.61161356dup , CM000673.1:g.61161356dup	GRCh37
NC_000011.8:g.60917932dup	NCBI36
NG_032976.1:g.6525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.137dup
ENST00000544795.6:n.414dup
ENST00000684926.1:n.153dup
ENST00000688959.1:c.-123dup
ENST00000690736.1:c.137dup
ENST00000515837.7:c.137dup
ENST00000334888.9:c.137dup
ENST00000398979.7:c.-47dup
ENST00000515837.6:c.137dup
ENST00000541473.1:n.151dup
ENST00000544795.5:n.153dup
NM_001173990.2:c.137dup
NM_001173991.2:c.137dup
NM_016499.5:c.-47dup
XM_005274039.3:c.-47dup
NM_001330285.1:c.-47dup
XM_005274039.4:c.-47dup
NM_001173990.3:c.137dup
NM_001173991.3:c.137dup
NM_001330285.2:c.-47dup
NM_016499.6:c.-47dup