Canonical Allele Identifier: CA678971605

Gene: TMEM216

Linked Data

• dbSNP Id: rs1328010371
• gnomAD v3: 11-61393596-GCCCACTGGTGA-G
• gnomAD v4: 11-61393596-GCCCACTGGTGA-G
• MyVariant Identifiers: chr11:g.61161069_61161079del (hg19) ; chr11:g.61393597_61393607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393600_61393610del , CM000673.2:g.61393600_61393610del	GRCh38
NC_000011.9:g.61161072_61161082del , CM000673.1:g.61161072_61161082del	GRCh37
NC_000011.8:g.60917648_60917658del	NCBI36
NG_032976.1:g.6241_6251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.136+268_137-274del	ENSP00000334844.5:n.136+268_137-274del
ENST00000544795.6:n.413+268_414-274del
ENST00000684926.1:n.152+268_153-274del
ENST00000688959.1:c.-124+268_-123-274del	ENSP00000509213.1:n.-124+268_-123-274del
ENST00000690736.1:c.136+268_137-274del	ENSP00000508542.1:n.136+268_137-274del
ENST00000515837.7:c.136+268_137-274del MANE Select	ENSP00000440638.1:n.136+268_137-274del
ENST00000334888.9:c.136+268_137-274del	ENSP00000334844.5:n.136+268_137-274del
ENST00000398979.7:c.-48+268_-47-274del	ENSP00000381950.3:n.-48+268_-47-274del
ENST00000515837.6:c.136+268_137-274del	ENSP00000440638.1:n.136+268_137-274del
ENST00000541473.1:n.150+268_151-274del
ENST00000544795.5:n.152+268_153-274del
NM_001173990.2:c.136+268_137-274del	NP_001167461.1:n.136+268_137-274del
NM_001173991.2:c.136+268_137-274del	NP_001167462.1:n.136+268_137-274del
NM_016499.5:c.-48+268_-47-274del	NP_057583.2:n.-48+268_-47-274del
XM_005274039.3:c.-48+268_-47-274del	XP_005274096.1:n.-48+268_-47-274del
NM_001330285.1:c.-48+268_-47-274del	NP_001317214.1:n.-48+268_-47-274del
XM_005274039.4:c.-48+268_-47-274del	XP_005274096.1:n.-48+268_-47-274del
NM_001173990.3:c.136+268_137-274del MANE Select	NP_001167461.1:n.136+268_137-274del
NM_001173991.3:c.136+268_137-274del	NP_001167462.1:n.136+268_137-274del
NM_001330285.2:c.-48+268_-47-274del	NP_001317214.1:n.-48+268_-47-274del
NM_016499.6:c.-48+268_-47-274del	NP_057583.2:n.-48+268_-47-274del