Canonical Allele Identifier: CA222894493

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392683_61392686del , CM000673.2:g.61392683_61392686del	GRCh38
NC_000011.9:g.61160155_61160158del , CM000673.1:g.61160155_61160158del	GRCh37
NC_000011.8:g.60916731_60916734del	NCBI36
NG_032976.1:g.5324_5327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.34+18_34+21del	ENSP00000334844.5:n.34+18_34+21del
ENST00000544795.6:n.97_100del
ENST00000684926.1:n.50+4_50+7del
ENST00000688959.1:c.-226+4_-226+7del	ENSP00000509213.1:n.-226+4_-226+7del
ENST00000690736.1:c.34+18_34+21del	ENSP00000508542.1:n.34+18_34+21del
ENST00000515837.7:c.34+18_34+21del MANE Select	ENSP00000440638.1:n.34+18_34+21del
ENST00000334888.9:c.34+18_34+21del	ENSP00000334844.5:n.34+18_34+21del
ENST00000398979.7:c.-150+4_-150+7del	ENSP00000381950.3:n.-150+4_-150+7del
ENST00000515837.6:c.34+18_34+21del	ENSP00000440638.1:n.34+18_34+21del
ENST00000541473.1:n.48+4_48+7del
ENST00000544795.5:n.50+4_50+7del
NM_001173990.2:c.34+18_34+21del	NP_001167461.1:n.34+18_34+21del
NM_001173991.2:c.34+18_34+21del	NP_001167462.1:n.34+18_34+21del
NM_016499.5:c.-150+4_-150+7del	NP_057583.2:n.-150+4_-150+7del
XM_005274039.3:c.-284+4_-284+7del	XP_005274096.1:n.-284+4_-284+7del
NM_001330285.1:c.-150+4_-150+7del	NP_001317214.1:n.-150+4_-150+7del
XM_005274039.4:c.-284+4_-284+7del	XP_005274096.1:n.-284+4_-284+7del
NM_001173990.3:c.34+18_34+21del MANE Select	NP_001167461.1:n.34+18_34+21del
NM_001173991.3:c.34+18_34+21del	NP_001167462.1:n.34+18_34+21del
NM_001330285.2:c.-150+4_-150+7del	NP_001317214.1:n.-150+4_-150+7del
NM_016499.6:c.-150+4_-150+7del	NP_057583.2:n.-150+4_-150+7del