Canonical Allele Identifier: CA2657375347

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352548-GAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352552_46352609del , CM000684.2:g.46352552_46352609del	GRCh38
NC_000022.10:g.46748449_46748506del , CM000684.1:g.46748449_46748506del	GRCh37
NC_000022.9:g.45127113_45127170del	NCBI36
NG_012173.1:g.22152_22209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.1042_1099del
ENST00000642923.1:c.667+222_667+279del	ENSP00000494255.1:n.667+222_667+279del
ENST00000643137.1:c.667+222_667+279del	ENSP00000495331.1:n.667+222_667+279del
ENST00000644006.1:c.*216+222_*216+279del	ENSP00000493778.1:n.*216+222_*216+279del
ENST00000645026.1:n.823+222_823+279del
ENST00000645190.1:c.772+222_772+279del MANE Select	ENSP00000496496.1:n.772+222_772+279del
ENST00000647301.1:c.*216+222_*216+279del	ENSP00000496641.1:n.*216+222_*216+279del
ENST00000290846.8:c.772+222_772+279del	ENSP00000290846.4:n.772+222_772+279del
ENST00000381019.3:c.772+222_772+279del	ENSP00000370407.3:n.772+222_772+279del
ENST00000381021.7:c.*365+222_*365+279del	ENSP00000370409.3:n.*365+222_*365+279del
ENST00000441818.5:c.*306+222_*306+279del	ENSP00000393014.1:n.*306+222_*306+279del
ENST00000453630.5:c.*310+222_*310+279del	ENSP00000398488.1:n.*310+222_*310+279del
ENST00000456595.5:c.*306+222_*306+279del	ENSP00000413880.1:n.*306+222_*306+279del
ENST00000457572.5:c.*216+222_*216+279del	ENSP00000407700.1:n.*216+222_*216+279del
ENST00000463785.1:n.268_325del
NM_001282782.1:c.430+222_430+279del	NP_001269711.1:n.430+222_430+279del
NM_001282783.1:c.352+222_352+279del	NP_001269712.1:n.352+222_352+279del
NM_001282784.1:c.352+222_352+279del	NP_001269713.1:n.352+222_352+279del
NM_001282785.1:c.772+222_772+279del	NP_001269714.1:n.772+222_772+279del
NM_018006.4:c.772+222_772+279del	NP_060476.2:n.772+222_772+279del
NR_104240.1:n.1081+222_1081+279del
NR_104241.1:n.974+222_974+279del
XM_005261678.1:c.376+222_376+279del	XP_005261735.1:n.376+222_376+279del
XM_005261681.1:c.376+222_376+279del	XP_005261738.1:n.376+222_376+279del
XM_011530271.1:c.667+222_667+279del	XP_011528573.1:n.667+222_667+279del
XM_011530272.1:c.772+222_772+279del	XP_011528574.1:n.772+222_772+279del
XM_011530273.1:c.772+222_772+279del	XP_011528575.1:n.772+222_772+279del
XM_011530274.1:c.430+222_430+279del	XP_011528576.1:n.430+222_430+279del
XM_011530275.1:c.376+222_376+279del	XP_011528577.1:n.376+222_376+279del
XM_011530271.2:c.667+222_667+279del	XP_011528573.1:n.667+222_667+279del
XM_011530272.2:c.772+222_772+279del	XP_011528574.1:n.772+222_772+279del
XM_011530273.2:c.772+222_772+279del	XP_011528575.1:n.772+222_772+279del
XM_011530274.2:c.430+222_430+279del	XP_011528576.1:n.430+222_430+279del
XM_024452260.1:c.667+222_667+279del	XP_024308028.1:n.667+222_667+279del
XR_001755261.2:n.846_903del
XR_001755262.2:n.846_903del
NM_018006.5:c.772+222_772+279del MANE Select	NP_060476.2:n.772+222_772+279del
NM_001282782.2:c.430+222_430+279del	NP_001269711.1:n.430+222_430+279del
NM_001282783.2:c.352+222_352+279del	NP_001269712.1:n.352+222_352+279del
NM_001282784.2:c.352+222_352+279del	NP_001269713.1:n.352+222_352+279del
NM_001282785.2:c.772+222_772+279del	NP_001269714.1:n.772+222_772+279del
NR_104240.2:n.768+222_768+279del
NR_104241.2:n.661+222_661+279del