Canonical Allele Identifier: CA2806422076

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845713_28845714insA , CM000678.2:g.28845713_28845714insA	GRCh38
NC_000016.9:g.28857034_28857035insA , CM000678.1:g.28857034_28857035insA	GRCh37
NC_000016.8:g.28764535_28764536insA	NCBI36
NG_008964.1:g.5695_5696insT
NG_029706.2:g.4114_4115insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+198_247+199insT MANE Select	ENSP00000322439.3:n.247+198_247+199insT
ENST00000313511.7:c.247+198_247+199insT	ENSP00000322439.3:n.247+198_247+199insT
ENST00000565012.1:c.247+198_247+199insT	ENSP00000455007.1:n.247+198_247+199insT
NM_003321.4:c.247+198_247+199insT	NP_003312.3:n.247+198_247+199insT
XM_011545928.1:c.247+198_247+199insT	XP_011544230.1:n.247+198_247+199insT
NM_001365360.1:c.247+198_247+199insT	NP_001352289.1:n.247+198_247+199insT
NM_003321.5:c.247+198_247+199insT MANE Select	NP_003312.3:n.247+198_247+199insT
NM_001365360.2:c.247+198_247+199insT	NP_001352289.1:n.247+198_247+199insT