Canonical Allele Identifier: CA1977296683

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393596_61393607delinsGCCCACTGGTGA , CM000673.2:g.61393596_61393607delinsGCCCACTGGTGA	GRCh38
NC_000011.9:g.61161068_61161079delinsGCCCACTGGTGA , CM000673.1:g.61161068_61161079delinsGCCCACTGGTGA	GRCh37
NC_000011.8:g.60917644_60917655delinsGCCCACTGGTGA	NCBI36
NG_032976.1:g.6237_6248delinsGCCCACTGGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.136+264_136+275delinsGCCCACTGGTGA	ENSP00000334844.5:n.136+264_136+275delinsGCCCACTGGTGA
ENST00000544795.6:n.413+264_413+275delinsGCCCACTGGTGA
ENST00000684926.1:n.152+264_152+275delinsGCCCACTGGTGA
ENST00000688959.1:c.-124+264_-124+275delinsGCCCACTGGTGA	ENSP00000509213.1:n.-124+264_-124+275delinsGCCCACTGGTGA
ENST00000690736.1:c.136+264_136+275delinsGCCCACTGGTGA	ENSP00000508542.1:n.136+264_136+275delinsGCCCACTGGTGA
ENST00000515837.7:c.136+264_136+275delinsGCCCACTGGTGA MANE Select	ENSP00000440638.1:n.136+264_136+275delinsGCCCACTGGTGA
ENST00000334888.9:c.136+264_136+275delinsGCCCACTGGTGA	ENSP00000334844.5:n.136+264_136+275delinsGCCCACTGGTGA
ENST00000398979.7:c.-48+264_-48+275delinsGCCCACTGGTGA	ENSP00000381950.3:n.-48+264_-48+275delinsGCCCACTGGTGA
ENST00000515837.6:c.136+264_136+275delinsGCCCACTGGTGA	ENSP00000440638.1:n.136+264_136+275delinsGCCCACTGGTGA
ENST00000541473.1:n.150+264_150+275delinsGCCCACTGGTGA
ENST00000544795.5:n.152+264_152+275delinsGCCCACTGGTGA
NM_001173990.2:c.136+264_136+275delinsGCCCACTGGTGA	NP_001167461.1:n.136+264_136+275delinsGCCCACTGGTGA
NM_001173991.2:c.136+264_136+275delinsGCCCACTGGTGA	NP_001167462.1:n.136+264_136+275delinsGCCCACTGGTGA
NM_016499.5:c.-48+264_-48+275delinsGCCCACTGGTGA	NP_057583.2:n.-48+264_-48+275delinsGCCCACTGGTGA
XM_005274039.3:c.-48+264_-48+275delinsGCCCACTGGTGA	XP_005274096.1:n.-48+264_-48+275delinsGCCCACTGGTGA
NM_001330285.1:c.-48+264_-48+275delinsGCCCACTGGTGA	NP_001317214.1:n.-48+264_-48+275delinsGCCCACTGGTGA
XM_005274039.4:c.-48+264_-48+275delinsGCCCACTGGTGA	XP_005274096.1:n.-48+264_-48+275delinsGCCCACTGGTGA
NM_001173990.3:c.136+264_136+275delinsGCCCACTGGTGA MANE Select	NP_001167461.1:n.136+264_136+275delinsGCCCACTGGTGA
NM_001173991.3:c.136+264_136+275delinsGCCCACTGGTGA	NP_001167462.1:n.136+264_136+275delinsGCCCACTGGTGA
NM_001330285.2:c.-48+264_-48+275delinsGCCCACTGGTGA	NP_001317214.1:n.-48+264_-48+275delinsGCCCACTGGTGA
NM_016499.6:c.-48+264_-48+275delinsGCCCACTGGTGA	NP_057583.2:n.-48+264_-48+275delinsGCCCACTGGTGA