Canonical Allele Identifier: CA2215863303

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845060_28845063delinsAGAG , CM000678.2:g.28845060_28845063delinsAGAG	GRCh38
NC_000016.9:g.28856381_28856384delinsAGAG , CM000678.1:g.28856381_28856384delinsAGAG	GRCh37
NC_000016.8:g.28763882_28763885delinsAGAG	NCBI36
NG_008964.1:g.6346_6349delinsCTCT
NG_029706.2:g.3461_3464delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.415-8_415-5delinsCTCT MANE Select	ENSP00000322439.3:n.415-8_415-5delinsCTCT
ENST00000313511.7:c.415-8_415-5delinsCTCT	ENSP00000322439.3:n.415-8_415-5delinsCTCT
ENST00000565012.1:c.248-8_248-5delinsCTCT	ENSP00000455007.1:n.248-8_248-5delinsCTCT
NM_003321.4:c.415-8_415-5delinsCTCT	NP_003312.3:n.415-8_415-5delinsCTCT
XM_011545928.1:c.415-8_415-5delinsCTCT	XP_011544230.1:n.415-8_415-5delinsCTCT
NM_001365360.1:c.415-8_415-5delinsCTCT	NP_001352289.1:n.415-8_415-5delinsCTCT
NM_003321.5:c.415-8_415-5delinsCTCT MANE Select	NP_003312.3:n.415-8_415-5delinsCTCT
NM_001365360.2:c.415-8_415-5delinsCTCT	NP_001352289.1:n.415-8_415-5delinsCTCT