Canonical Allele Identifier: CA1026290269

Gene: TRMU

Linked Data

• dbSNP Id: rs2078463707
• gnomAD v3: 22-46352529-GGCCTCAGCTGAGATGCTGGAGTTCATGAA-G
• gnomAD v4: 22-46352529-GGCCTCAGCTGAGATGCTGGAGTTCATGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352530_46352558del , CM000684.2:g.46352530_46352558del	GRCh38
NC_000022.10:g.46748427_46748455del , CM000684.1:g.46748427_46748455del	GRCh37
NC_000022.9:g.45127091_45127119del	NCBI36
NG_012173.1:g.22130_22158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.1020_1048del
ENST00000642923.1:c.667+200_667+228del	ENSP00000494255.1:n.667+200_667+228del
ENST00000643137.1:c.667+200_667+228del	ENSP00000495331.1:n.667+200_667+228del
ENST00000644006.1:c.*216+200_*216+228del	ENSP00000493778.1:n.*216+200_*216+228del
ENST00000645026.1:n.823+200_823+228del
ENST00000645190.1:c.772+200_772+228del MANE Select	ENSP00000496496.1:n.772+200_772+228del
ENST00000647301.1:c.*216+200_*216+228del	ENSP00000496641.1:n.*216+200_*216+228del
ENST00000290846.8:c.772+200_772+228del	ENSP00000290846.4:n.772+200_772+228del
ENST00000381019.3:c.772+200_772+228del	ENSP00000370407.3:n.772+200_772+228del
ENST00000381021.7:c.*365+200_*365+228del	ENSP00000370409.3:n.*365+200_*365+228del
ENST00000441818.5:c.*306+200_*306+228del	ENSP00000393014.1:n.*306+200_*306+228del
ENST00000453630.5:c.*310+200_*310+228del	ENSP00000398488.1:n.*310+200_*310+228del
ENST00000456595.5:c.*306+200_*306+228del	ENSP00000413880.1:n.*306+200_*306+228del
ENST00000457572.5:c.*216+200_*216+228del	ENSP00000407700.1:n.*216+200_*216+228del
ENST00000463785.1:n.246_274del
NM_001282782.1:c.430+200_430+228del	NP_001269711.1:n.430+200_430+228del
NM_001282783.1:c.352+200_352+228del	NP_001269712.1:n.352+200_352+228del
NM_001282784.1:c.352+200_352+228del	NP_001269713.1:n.352+200_352+228del
NM_001282785.1:c.772+200_772+228del	NP_001269714.1:n.772+200_772+228del
NM_018006.4:c.772+200_772+228del	NP_060476.2:n.772+200_772+228del
NR_104240.1:n.1081+200_1081+228del
NR_104241.1:n.974+200_974+228del
XM_005261678.1:c.376+200_376+228del	XP_005261735.1:n.376+200_376+228del
XM_005261681.1:c.376+200_376+228del	XP_005261738.1:n.376+200_376+228del
XM_011530271.1:c.667+200_667+228del	XP_011528573.1:n.667+200_667+228del
XM_011530272.1:c.772+200_772+228del	XP_011528574.1:n.772+200_772+228del
XM_011530273.1:c.772+200_772+228del	XP_011528575.1:n.772+200_772+228del
XM_011530274.1:c.430+200_430+228del	XP_011528576.1:n.430+200_430+228del
XM_011530275.1:c.376+200_376+228del	XP_011528577.1:n.376+200_376+228del
XM_011530271.2:c.667+200_667+228del	XP_011528573.1:n.667+200_667+228del
XM_011530272.2:c.772+200_772+228del	XP_011528574.1:n.772+200_772+228del
XM_011530273.2:c.772+200_772+228del	XP_011528575.1:n.772+200_772+228del
XM_011530274.2:c.430+200_430+228del	XP_011528576.1:n.430+200_430+228del
XM_024452260.1:c.667+200_667+228del	XP_024308028.1:n.667+200_667+228del
XR_001755261.2:n.824_852del
XR_001755262.2:n.824_852del
NM_018006.5:c.772+200_772+228del MANE Select	NP_060476.2:n.772+200_772+228del
NM_001282782.2:c.430+200_430+228del	NP_001269711.1:n.430+200_430+228del
NM_001282783.2:c.352+200_352+228del	NP_001269712.1:n.352+200_352+228del
NM_001282784.2:c.352+200_352+228del	NP_001269713.1:n.352+200_352+228del
NM_001282785.2:c.772+200_772+228del	NP_001269714.1:n.772+200_772+228del
NR_104240.2:n.768+200_768+228del
NR_104241.2:n.661+200_661+228del