Canonical Allele Identifier: CA371489122

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 2138392
• ClinVar RCV Id: RCV003050567
• dbSNP Id: rs1444024910
• gnomAD v2: 8-74888544-T-TGG
• gnomAD v3: 8-73976309-T-TGG
• gnomAD v4: 8-73976309-T-TGG
• MyVariant Identifiers: chr8:g.74888544_74888545insGG (hg19) ; chr8:g.73976309_73976310insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976311_73976312dup , CM000670.2:g.73976311_73976312dup	GRCh38
NC_000008.10:g.74888546_74888547dup , CM000670.1:g.74888546_74888547dup	GRCh37
NC_000008.9:g.75051100_75051101dup	NCBI36
NG_016618.1:g.5170_5171dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.30_31dup MANE Select	ENSP00000312599.5:p.Ala11GlyfsTer?
ENST00000312184.5:c.30_31dup	ENSP00000312599.5:p.Ala11GlyfsTer?
ENST00000416961.6:c.30_31dup	ENSP00000407695.2:p.Ala11GlyfsTer?
ENST00000517439.1:c.30_31dup	ENSP00000429467.1:p.Ala11GlyfsTer?
ENST00000517614.1:n.93_94dup
ENST00000520167.5:n.317+350_317+351dup
ENST00000523794.1:n.581_582dup
NM_001040613.2:c.30_31dup	NP_001035703.1:p.Ala11GlyfsTer?
NM_017866.5:c.30_31dup	NP_060336.3:p.Ala11GlyfsTer?
NR_033334.1:n.170_171dup
NM_017866.6:c.30_31dup MANE Select	NP_060336.3:p.Ala11GlyfsTer?
NM_001040613.3:c.30_31dup	NP_001035703.1:p.Ala11GlyfsTer?
NR_033334.2:n.117_118dup