Canonical Allele Identifier: CA1525816961

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1324750
• ClinVar RCV Id: RCV001782470
• dbSNP Id: rs1212701617
• gnomAD v4: 5-7885709-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885713del , CM000667.2:g.7885713del	GRCh38
NC_000005.9:g.7885826del , CM000667.1:g.7885826del	GRCh37
NC_000005.8:g.7938826del	NCBI36
NG_008856.1:g.21610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.916del MANE Select	ENSP00000402510.2:p.Ser306ProfsTer10
ENST00000264668.6:c.997del	ENSP00000264668.2:p.Ser333ProfsTer10
ENST00000440940.6:c.916del	ENSP00000402510.2:p.Ser306ProfsTer10
ENST00000508101.5:n.156del
ENST00000510525.5:c.941del
ENST00000511461.5:c.829del
ENST00000513439.5:c.*623del	ENSP00000426710.1:n.*623del
NM_002454.2:c.916del	NP_002445.2:p.Ser306ProfsTer10
NM_024010.2:c.997del	NP_076915.2:p.Ser333ProfsTer10
XM_006714474.2:c.997del	XP_006714537.1:p.Ser333ProfsTer10
XM_011514043.1:c.997del	XP_011512345.1:p.Ser333ProfsTer10
XM_011514044.1:c.916del	XP_011512346.1:p.Ser306ProfsTer10
XM_011514045.1:c.1137del	XP_011512347.1:p.Pro380LeufsTer13
XR_241702.1:n.1019del
XR_241703.1:n.1012del
XR_925614.1:n.1019del
XR_925615.1:n.1019del
NM_001364440.1:c.916del	NP_001351369.1:p.Ser306ProfsTer10
NM_001364441.1:c.916del	NP_001351370.1:p.Ser306ProfsTer10
NM_001364442.1:c.916del	NP_001351371.1:p.Ser306ProfsTer10
NM_024010.3:c.916del	NP_076915.3:p.Ser306ProfsTer10
NR_134480.1:n.1039del
NR_134481.1:n.1053del
NR_134482.1:n.899del
NR_157168.1:n.969del
NR_157169.1:n.829del
NR_157170.1:n.995del
NR_157171.1:n.829del
NR_157172.1:n.855del
NR_157173.1:n.983del
NR_157174.1:n.855del
NR_157175.1:n.1009del
NR_157176.1:n.1149del
NR_157177.1:n.1004del
NR_157178.1:n.1009del
XM_024446063.1:c.961del	XP_024301831.1:p.Ser321ProfsTer10
XM_024446064.1:c.916del	XP_024301832.1:p.Ser306ProfsTer10
XR_001742071.1:n.1019del
XR_001742072.1:n.1019del
XR_001742074.1:n.1019del
XR_001742075.1:n.1019del
XR_001742076.1:n.1159del
XR_001742077.1:n.1159del
NM_001364440.2:c.916del	NP_001351369.1:p.Ser306ProfsTer10
NM_001364441.2:c.916del	NP_001351370.1:p.Ser306ProfsTer10
NM_001364442.2:c.916del	NP_001351371.1:p.Ser306ProfsTer10
NM_002454.3:c.916del MANE Select	NP_002445.2:p.Ser306ProfsTer10
NM_024010.4:c.916del	NP_076915.3:p.Ser306ProfsTer10
NR_134480.2:n.995del
NR_134481.2:n.1009del
NR_134482.2:n.855del
NR_157168.2:n.969del
NR_157169.2:n.829del
NR_157170.2:n.995del
NR_157171.2:n.829del
NR_157172.2:n.855del
NR_157173.2:n.983del
NR_157174.2:n.855del
NR_157175.2:n.1009del
NR_157176.2:n.1149del
NR_157177.2:n.1004del
NR_157178.2:n.1009del