Canonical Allele Identifier: CA658797654

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 502365
• ClinVar RCV Id: RCV000593905 ; RCV001359500
• dbSNP Id: rs1554972391
• MyVariant Identifiers: chr11:g.61160080_61160115del (hg19) ; chr11:g.61392608_61392643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392608_61392643del , CM000673.2:g.61392608_61392643del	GRCh38
NC_000011.9:g.61160080_61160115del , CM000673.1:g.61160080_61160115del	GRCh37
NC_000011.8:g.60916656_60916691del	NCBI36
NG_032976.1:g.5249_5284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.-24_12del
ENST00000544795.6:n.22_57del
ENST00000690736.1:c.-24_12del
ENST00000515837.7:c.-24_12del
ENST00000334888.9:c.-24_12del
ENST00000398979.7:c.-221_-186del	ENSP00000381950.3:n.-221_-186del
ENST00000515837.6:c.-24_12del
NM_001173990.2:c.-24_12del
NM_001173991.2:c.-24_12del
NM_016499.5:c.-221_-186del	NP_057583.2:n.-221_-186del
XM_005274039.3:c.-355_-320del	XP_005274096.1:n.-355_-320del
NM_001330285.1:c.-221_-186del	NP_001317214.1:n.-221_-186del
XM_005274039.4:c.-355_-320del	XP_005274096.1:n.-355_-320del
NM_001173990.3:c.-24_12del
NM_001173991.3:c.-24_12del
NM_001330285.2:c.-221_-186del	NP_001317214.1:n.-221_-186del
NM_016499.6:c.-221_-186del	NP_057583.2:n.-221_-186del