Canonical Allele Identifier: CA2806422045

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845470_28845471insCAAACACACCCAAC , CM000678.2:g.28845470_28845471insCAAACACACCCAAC	GRCh38
NC_000016.9:g.28856791_28856792insCAAACACACCCAAC , CM000678.1:g.28856791_28856792insCAAACACACCCAAC	GRCh37
NC_000016.8:g.28764292_28764293insCAAACACACCCAAC	NCBI36
NG_008964.1:g.5939_5940insTTGGGTGTGTTTGG
NG_029706.2:g.3871_3872insCAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.258_259insTTGGGTGTGTTTGG MANE Select	ENSP00000322439.3:p.Gly87LeufsTer?
ENST00000313511.7:c.258_259insTTGGGTGTGTTTGG	ENSP00000322439.3:p.Gly87LeufsTer?
ENST00000565012.1:c.248-415_248-414insTTGGGTGTGTTTGG	ENSP00000455007.1:n.248-415_248-414insTTGGGTGTGTTTGG
NM_003321.4:c.258_259insTTGGGTGTGTTTGG	NP_003312.3:p.Gly87LeufsTer?
XM_011545928.1:c.258_259insTTGGGTGTGTTTGG	XP_011544230.1:p.Gly87LeufsTer?
NM_001365360.1:c.258_259insTTGGGTGTGTTTGG	NP_001352289.1:p.Gly87LeufsTer?
NM_003321.5:c.258_259insTTGGGTGTGTTTGG MANE Select	NP_003312.3:p.Gly87LeufsTer?
NM_001365360.2:c.258_259insTTGGGTGTGTTTGG	NP_001352289.1:p.Gly87LeufsTer?