Canonical Allele Identifier: CA2215864543

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845602_28845604delinsCAG , CM000678.2:g.28845602_28845604delinsCAG	GRCh38
NC_000016.9:g.28856923_28856925delinsCAG , CM000678.1:g.28856923_28856925delinsCAG	GRCh37
NC_000016.8:g.28764424_28764426delinsCAG	NCBI36
NG_008964.1:g.5805_5807delinsCTG
NG_029706.2:g.4003_4005delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-124_248-122delinsCTG MANE Select	ENSP00000322439.3:n.248-124_248-122delinsCTG
ENST00000313511.7:c.248-124_248-122delinsCTG	ENSP00000322439.3:n.248-124_248-122delinsCTG
ENST00000565012.1:c.247+308_247+310delinsCTG	ENSP00000455007.1:n.247+308_247+310delinsCTG
NM_003321.4:c.248-124_248-122delinsCTG	NP_003312.3:n.248-124_248-122delinsCTG
XM_011545928.1:c.248-124_248-122delinsCTG	XP_011544230.1:n.248-124_248-122delinsCTG
NM_001365360.1:c.248-124_248-122delinsCTG	NP_001352289.1:n.248-124_248-122delinsCTG
NM_003321.5:c.248-124_248-122delinsCTG MANE Select	NP_003312.3:n.248-124_248-122delinsCTG
NM_001365360.2:c.248-124_248-122delinsCTG	NP_001352289.1:n.248-124_248-122delinsCTG