Canonical Allele Identifier: CA7213943
Gene: TRMT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60979584_60979587del , CM000676.2:g.60979584_60979587del GRCh38
NC_000014.8:g.61446302_61446305del , CM000676.1:g.61446302_61446305del GRCh37
NC_000014.7:g.60516055_60516058del NCBI36
NG_053119.1:g.7105_7108del

Transcript Alleles

HGVS Amino-acid Change
NM_020810.3:c.312_315del MANE Select NP_065861.3:p.Ile105SerfsTer4
ENST00000261249.7:c.312_315del MANE Select ENSP00000261249.6:p.Ile105SerfsTer4
NM_001350253.1:c.396_399del NP_001337182.1:p.Ile133SerfsTer4
NM_001350254.1:c.393_396del NP_001337183.1:p.Ile132SerfsTer4
ENST00000261249.6:c.312_315del ENSP00000261249.6:p.Ile105SerfsTer4
ENST00000553903.1:c.396_399del ENSP00000452567.1:p.Ile133SerfsTer4
ENST00000555420.1:c.393_396del ENSP00000451666.1:p.Ile132SerfsTer4
XM_005267916.2:c.396_399del XP_005267973.2:p.Ile133SerfsTer4
XM_011537017.1:c.393_396del XP_011535319.1:p.Ile132SerfsTer4