Canonical Allele Identifier: CA658822740
Gene: TMEM216 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61397860_61397861insTA , CM000673.2:g.61397860_61397861insTA GRCh38
NC_000011.9:g.61165332_61165333insTA , CM000673.1:g.61165332_61165333insTA GRCh37
NC_000011.8:g.60921908_60921909insTA NCBI36
NG_032976.1:g.10501_10502insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.316_317insTA ENSP00000334844.5:p.Tyr106LeufsTer16
ENST00000544795.6:n.639_640insTA
ENST00000684926.1:n.378_379insTA
ENST00000688959.1:c.58_59insTA ENSP00000509213.1:p.Tyr20LeufsTer16
ENST00000690736.1:c.*41_*42insTA ENSP00000508542.1:n.*41_*42insTA
ENST00000515837.7:c.316_317insTA MANE Select ENSP00000440638.1:p.Tyr106LeufsTer16
ENST00000334888.9:c.316_317insTA ENSP00000334844.5:p.Tyr106LeufsTer16
ENST00000398979.7:c.133_134insTA ENSP00000381950.3:p.Tyr45LeufsTer16
ENST00000515837.6:c.316_317insTA ENSP00000440638.1:p.Tyr106LeufsTer16
ENST00000544795.5:n.378_379insTA
NM_001173990.2:c.316_317insTA NP_001167461.1:p.Tyr106LeufsTer16
NM_001173991.2:c.316_317insTA NP_001167462.1:p.Tyr106LeufsTer16
NM_016499.5:c.133_134insTA NP_057583.2:p.Tyr45LeufsTer16
XM_005274039.3:c.133_134insTA XP_005274096.1:p.Tyr45LeufsTer16
NM_001330285.1:c.133_134insTA NP_001317214.1:p.Tyr45LeufsTer16
XM_005274039.4:c.133_134insTA XP_005274096.1:p.Tyr45LeufsTer16
NM_001173990.3:c.316_317insTA MANE Select NP_001167461.1:p.Tyr106LeufsTer16
NM_001173991.3:c.316_317insTA NP_001167462.1:p.Tyr106LeufsTer16
NM_001330285.2:c.133_134insTA NP_001317214.1:p.Tyr45LeufsTer16
NM_016499.6:c.133_134insTA NP_057583.2:p.Tyr45LeufsTer16