Canonical Allele Identifier: CA2687662371

Gene: TMEM70

Linked Data

• gnomAD v4: 8-73976383-C-CTCTGTCTCCCGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976386_73976400dup , CM000670.2:g.73976386_73976400dup	GRCh38
NC_000008.10:g.74888621_74888635dup , CM000670.1:g.74888621_74888635dup	GRCh37
NC_000008.9:g.75051175_75051189dup	NCBI36
NG_016618.1:g.5245_5259dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000312184.6:c.105_119dup MANE Select	ENSP00000312599.5:p.Ser40_Ser41insValSerArgAlaSer
ENST00000312184.5:c.105_119dup	ENSP00000312599.5:p.Ser40_Ser41insValSerArgAlaSer
ENST00000416961.6:c.105_119dup	ENSP00000407695.2:p.Ser40_Ser41insValSerArgAlaSer
ENST00000517439.1:c.105_119dup	ENSP00000429467.1:p.Ser40_Ser41insValSerArgAlaSer
ENST00000517614.1:n.168_182dup
ENST00000520167.5:n.317+425_317+439dup
ENST00000523794.1:n.656_670dup
NM_001040613.2:c.105_119dup	NP_001035703.1:p.Ser40_Ser41insValSerArgAlaSer
NM_017866.5:c.105_119dup	NP_060336.3:p.Ser40_Ser41insValSerArgAlaSer
NR_033334.1:n.245_259dup
NM_017866.6:c.105_119dup MANE Select	NP_060336.3:p.Ser40_Ser41insValSerArgAlaSer
NM_001040613.3:c.105_119dup	NP_001035703.1:p.Ser40_Ser41insValSerArgAlaSer
NR_033334.2:n.192_206dup