Canonical Allele Identifier: CA2215864071

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845417_28845418delinsTC , CM000678.2:g.28845417_28845418delinsTC	GRCh38
NC_000016.9:g.28856738_28856739delinsTC , CM000678.1:g.28856738_28856739delinsTC	GRCh37
NC_000016.8:g.28764239_28764240delinsTC	NCBI36
NG_008964.1:g.5991_5992delinsGA
NG_029706.2:g.3818_3819delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.310_311delinsGA MANE Select	ENSP00000322439.3:p.Glu104=
ENST00000313511.7:c.310_311delinsGA	ENSP00000322439.3:p.Glu104=
ENST00000565012.1:c.248-363_248-362delinsGA	ENSP00000455007.1:n.248-363_248-362delinsGA
NM_003321.4:c.310_311delinsGA	NP_003312.3:p.Glu104=
XM_011545928.1:c.310_311delinsGA	XP_011544230.1:p.Glu104=
NM_001365360.1:c.310_311delinsGA	NP_001352289.1:p.Glu104=
NM_003321.5:c.310_311delinsGA MANE Select	NP_003312.3:p.Glu104=
NM_001365360.2:c.310_311delinsGA	NP_001352289.1:p.Glu104=