Canonical Allele Identifier: CA678971559

Gene: TMEM216

Linked Data

• dbSNP Id: rs1225716035
• gnomAD v4: 11-61392852-CAAAT-C
• MyVariant Identifiers: chr11:g.61160325_61160328del (hg19) ; chr11:g.61392853_61392856del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392856_61392859del , CM000673.2:g.61392856_61392859del	GRCh38
NC_000011.9:g.61160328_61160331del , CM000673.1:g.61160328_61160331del	GRCh37
NC_000011.8:g.60916904_60916907del	NCBI36
NG_032976.1:g.5497_5500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.34+191_34+194del	ENSP00000334844.5:n.34+191_34+194del
ENST00000544795.6:n.270_273del
ENST00000684926.1:n.50+177_50+180del
ENST00000688959.1:c.-226+177_-226+180del	ENSP00000509213.1:n.-226+177_-226+180del
ENST00000690736.1:c.34+191_34+194del	ENSP00000508542.1:n.34+191_34+194del
ENST00000515837.7:c.34+191_34+194del MANE Select	ENSP00000440638.1:n.34+191_34+194del
ENST00000334888.9:c.34+191_34+194del	ENSP00000334844.5:n.34+191_34+194del
ENST00000398979.7:c.-150+177_-150+180del	ENSP00000381950.3:n.-150+177_-150+180del
ENST00000515837.6:c.34+191_34+194del	ENSP00000440638.1:n.34+191_34+194del
ENST00000541473.1:n.48+177_48+180del
ENST00000544795.5:n.50+177_50+180del
NM_001173990.2:c.34+191_34+194del	NP_001167461.1:n.34+191_34+194del
NM_001173991.2:c.34+191_34+194del	NP_001167462.1:n.34+191_34+194del
NM_016499.5:c.-150+177_-150+180del	NP_057583.2:n.-150+177_-150+180del
XM_005274039.3:c.-191_-188del	XP_005274096.1:n.-191_-188del
NM_001330285.1:c.-150+177_-150+180del	NP_001317214.1:n.-150+177_-150+180del
XM_005274039.4:c.-191_-188del	XP_005274096.1:n.-191_-188del
NM_001173990.3:c.34+191_34+194del MANE Select	NP_001167461.1:n.34+191_34+194del
NM_001173991.3:c.34+191_34+194del	NP_001167462.1:n.34+191_34+194del
NM_001330285.2:c.-150+177_-150+180del	NP_001317214.1:n.-150+177_-150+180del
NM_016499.6:c.-150+177_-150+180del	NP_057583.2:n.-150+177_-150+180del