Canonical Allele Identifier: CA557637990

Gene: MTRR

Linked Data

• dbSNP Id: rs1486007771
• gnomAD v2: 5-7877938-T-TCATAGTGTTTCTAACAAGTGCATA
• gnomAD v3: 5-7877825-T-TCATAGTGTTTCTAACAAGTGCATA
• gnomAD v4: 5-7877825-T-TCATAGTGTTTCTAACAAGTGCATA
• MyVariant Identifiers: chr5:g.7877938_7877939insCATAGTGTTTCTAACAAGTGCATA (hg19) ; chr5:g.7877825_7877826insCATAGTGTTTCTAACAAGTGCATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877827_7877850dup , CM000667.2:g.7877827_7877850dup	GRCh38
NC_000005.9:g.7877940_7877963dup , CM000667.1:g.7877940_7877963dup	GRCh37
NC_000005.8:g.7930940_7930963dup	NCBI36
NG_008856.1:g.13724_13747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.402-117_402-94dup MANE Select	ENSP00000402510.2:n.402-117_402-94dup
ENST00000264668.6:c.483-117_483-94dup	ENSP00000264668.2:n.483-117_483-94dup
ENST00000440940.6:c.402-117_402-94dup	ENSP00000402510.2:n.402-117_402-94dup
ENST00000502509.5:n.617-117_617-94dup
ENST00000502550.5:c.402-117_402-94dup	ENSP00000424599.1:n.402-117_402-94dup
ENST00000503550.5:c.*337-117_*337-94dup	ENSP00000424644.1:n.*337-117_*337-94dup
ENST00000508047.5:c.455-117_455-94dup
ENST00000508890.1:n.215-117_215-94dup
ENST00000510279.5:c.*71-117_*71-94dup	ENSP00000427200.1:n.*71-117_*71-94dup
ENST00000510525.5:c.427-117_427-94dup
ENST00000511461.5:c.315-117_315-94dup
ENST00000513439.5:c.*109-117_*109-94dup	ENSP00000426710.1:n.*109-117_*109-94dup
ENST00000514220.5:c.187-117_187-94dup
ENST00000514369.5:c.*71-122_*71-99dup	ENSP00000426132.1:n.*71-122_*71-99dup
NM_002454.2:c.402-117_402-94dup	NP_002445.2:n.402-117_402-94dup
NM_024010.2:c.483-117_483-94dup	NP_076915.2:n.483-117_483-94dup
XM_006714474.2:c.483-117_483-94dup	XP_006714537.1:n.483-117_483-94dup
XM_011514043.1:c.483-117_483-94dup	XP_011512345.1:n.483-117_483-94dup
XM_011514044.1:c.402-117_402-94dup	XP_011512346.1:n.402-117_402-94dup
XM_011514045.1:c.483-117_483-94dup	XP_011512347.1:n.483-117_483-94dup
XR_241702.1:n.505-117_505-94dup
XR_241703.1:n.498-117_498-94dup
XR_925614.1:n.505-117_505-94dup
XR_925615.1:n.505-117_505-94dup
NM_001364440.1:c.402-117_402-94dup	NP_001351369.1:n.402-117_402-94dup
NM_001364441.1:c.402-117_402-94dup	NP_001351370.1:n.402-117_402-94dup
NM_001364442.1:c.402-117_402-94dup	NP_001351371.1:n.402-117_402-94dup
NM_024010.3:c.402-117_402-94dup	NP_076915.3:n.402-117_402-94dup
NR_134480.1:n.525-117_525-94dup
NR_134481.1:n.539-117_539-94dup
NR_134482.1:n.385-117_385-94dup
NR_157168.1:n.455-117_455-94dup
NR_157169.1:n.315-117_315-94dup
NR_157170.1:n.341-117_341-94dup
NR_157171.1:n.315-117_315-94dup
NR_157172.1:n.341-117_341-94dup
NR_157173.1:n.469-117_469-94dup
NR_157174.1:n.341-117_341-94dup
NR_157175.1:n.495-117_495-94dup
NR_157176.1:n.495-117_495-94dup
NR_157177.1:n.495-122_495-99dup
NR_157178.1:n.495-117_495-94dup
XM_024446063.1:c.447-117_447-94dup	XP_024301831.1:n.447-117_447-94dup
XM_024446064.1:c.402-117_402-94dup	XP_024301832.1:n.402-117_402-94dup
XR_001742071.1:n.505-117_505-94dup
XR_001742072.1:n.505-117_505-94dup
XR_001742074.1:n.505-117_505-94dup
XR_001742075.1:n.505-117_505-94dup
XR_001742076.1:n.505-117_505-94dup
XR_001742077.1:n.505-117_505-94dup
NM_001364440.2:c.402-117_402-94dup	NP_001351369.1:n.402-117_402-94dup
NM_001364441.2:c.402-117_402-94dup	NP_001351370.1:n.402-117_402-94dup
NM_001364442.2:c.402-117_402-94dup	NP_001351371.1:n.402-117_402-94dup
NM_002454.3:c.402-117_402-94dup MANE Select	NP_002445.2:n.402-117_402-94dup
NM_024010.4:c.402-117_402-94dup	NP_076915.3:n.402-117_402-94dup
NR_134480.2:n.481-117_481-94dup
NR_134481.2:n.495-117_495-94dup
NR_134482.2:n.341-117_341-94dup
NR_157168.2:n.455-117_455-94dup
NR_157169.2:n.315-117_315-94dup
NR_157170.2:n.341-117_341-94dup
NR_157171.2:n.315-117_315-94dup
NR_157172.2:n.341-117_341-94dup
NR_157173.2:n.469-117_469-94dup
NR_157174.2:n.341-117_341-94dup
NR_157175.2:n.495-117_495-94dup
NR_157176.2:n.495-117_495-94dup
NR_157177.2:n.495-122_495-99dup
NR_157178.2:n.495-117_495-94dup