Canonical Allele Identifier: CA2687662372

Gene: TMEM70

Linked Data

• gnomAD v4: 8-73976408-AGCGGGCCTTCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976411_73976423del , CM000670.2:g.73976411_73976423del	GRCh38
NC_000008.10:g.74888646_74888658del , CM000670.1:g.74888646_74888658del	GRCh37
NC_000008.9:g.75051200_75051212del	NCBI36
NG_016618.1:g.5270_5282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.130_142del MANE Select	ENSP00000312599.5:p.Gly44ArgfsTer2
ENST00000312184.5:c.130_142del	ENSP00000312599.5:p.Gly44ArgfsTer2
ENST00000416961.6:c.130_142del	ENSP00000407695.2:p.Gly44ArgfsTer2
ENST00000517439.1:c.130_142del	ENSP00000429467.1:p.Gly44ArgfsTer2
ENST00000517614.1:n.193_205del
ENST00000520167.5:n.317+450_317+462del
ENST00000523794.1:n.681_693del
NM_001040613.2:c.130_142del	NP_001035703.1:p.Gly44ArgfsTer2
NM_017866.5:c.130_142del	NP_060336.3:p.Gly44ArgfsTer2
NR_033334.1:n.270_282del
NM_017866.6:c.130_142del MANE Select	NP_060336.3:p.Gly44ArgfsTer2
NM_001040613.3:c.130_142del	NP_001035703.1:p.Gly44ArgfsTer2
NR_033334.2:n.217_229del