Canonical Allele Identifier: CA1977295901
Gene: TMEM216 HGNC NCBI

Linked Data

dbSNP Id: rs1858701875

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392713_61392721del , CM000673.2:g.61392713_61392721del GRCh38
NC_000011.9:g.61160185_61160193del , CM000673.1:g.61160185_61160193del GRCh37
NC_000011.8:g.60916761_60916769del NCBI36
NG_032976.1:g.5354_5362del

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.34+48_34+56del ENSP00000334844.5:n.34+48_34+56del
ENST00000544795.6:n.127_135del
ENST00000684926.1:n.50+34_50+42del
ENST00000688959.1:c.-226+34_-226+42del ENSP00000509213.1:n.-226+34_-226+42del
ENST00000690736.1:c.34+48_34+56del ENSP00000508542.1:n.34+48_34+56del
ENST00000515837.7:c.34+48_34+56del MANE Select ENSP00000440638.1:n.34+48_34+56del
ENST00000334888.9:c.34+48_34+56del ENSP00000334844.5:n.34+48_34+56del
ENST00000398979.7:c.-150+34_-150+42del ENSP00000381950.3:n.-150+34_-150+42del
ENST00000515837.6:c.34+48_34+56del ENSP00000440638.1:n.34+48_34+56del
ENST00000541473.1:n.48+34_48+42del
ENST00000544795.5:n.50+34_50+42del
NM_001173990.2:c.34+48_34+56del NP_001167461.1:n.34+48_34+56del
NM_001173991.2:c.34+48_34+56del NP_001167462.1:n.34+48_34+56del
NM_016499.5:c.-150+34_-150+42del NP_057583.2:n.-150+34_-150+42del
XM_005274039.3:c.-284+34_-283-43del XP_005274096.1:n.-284+34_-283-43del
NM_001330285.1:c.-150+34_-150+42del NP_001317214.1:n.-150+34_-150+42del
XM_005274039.4:c.-284+34_-283-43del XP_005274096.1:n.-284+34_-283-43del
NM_001173990.3:c.34+48_34+56del MANE Select NP_001167461.1:n.34+48_34+56del
NM_001173991.3:c.34+48_34+56del NP_001167462.1:n.34+48_34+56del
NM_001330285.2:c.-150+34_-150+42del NP_001317214.1:n.-150+34_-150+42del
NM_016499.6:c.-150+34_-150+42del NP_057583.2:n.-150+34_-150+42del