Canonical Allele Identifier: CA599503262

Gene: TMEM216

Linked Data

• dbSNP Id: rs1425684265
• gnomAD v2: 11-61161043-T-TG
• gnomAD v3: 11-61393571-T-TG
• gnomAD v4: 11-61393571-T-TG
• MyVariant Identifiers: chr11:g.61161043_61161044insG (hg19) ; chr11:g.61393571_61393572insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393572dup , CM000673.2:g.61393572dup	GRCh38
NC_000011.9:g.61161044dup , CM000673.1:g.61161044dup	GRCh37
NC_000011.8:g.60917620dup	NCBI36
NG_032976.1:g.6213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.136+240dup	ENSP00000334844.5:n.136+240dup
ENST00000544795.6:n.413+240dup
ENST00000684926.1:n.152+240dup
ENST00000688959.1:c.-124+240dup	ENSP00000509213.1:n.-124+240dup
ENST00000690736.1:c.136+240dup	ENSP00000508542.1:n.136+240dup
ENST00000515837.7:c.136+240dup MANE Select	ENSP00000440638.1:n.136+240dup
ENST00000334888.9:c.136+240dup	ENSP00000334844.5:n.136+240dup
ENST00000398979.7:c.-48+240dup	ENSP00000381950.3:n.-48+240dup
ENST00000515837.6:c.136+240dup	ENSP00000440638.1:n.136+240dup
ENST00000541473.1:n.150+240dup
ENST00000544795.5:n.152+240dup
NM_001173990.2:c.136+240dup	NP_001167461.1:n.136+240dup
NM_001173991.2:c.136+240dup	NP_001167462.1:n.136+240dup
NM_016499.5:c.-48+240dup	NP_057583.2:n.-48+240dup
XM_005274039.3:c.-48+240dup	XP_005274096.1:n.-48+240dup
NM_001330285.1:c.-48+240dup	NP_001317214.1:n.-48+240dup
XM_005274039.4:c.-48+240dup	XP_005274096.1:n.-48+240dup
NM_001173990.3:c.136+240dup MANE Select	NP_001167461.1:n.136+240dup
NM_001173991.3:c.136+240dup	NP_001167462.1:n.136+240dup
NM_001330285.2:c.-48+240dup	NP_001317214.1:n.-48+240dup
NM_016499.6:c.-48+240dup	NP_057583.2:n.-48+240dup