Canonical Allele Identifier: CA2673202257

Gene: MTRR

Linked Data

• gnomAD v4: 5-7878195-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878199_7878201del , CM000667.2:g.7878199_7878201del	GRCh38
NC_000005.9:g.7878312_7878314del , CM000667.1:g.7878312_7878314del	GRCh37
NC_000005.8:g.7931312_7931314del	NCBI36
NG_008856.1:g.14096_14098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.657_659del MANE Select	ENSP00000402510.2:p.Val220del
ENST00000264668.6:c.738_740del	ENSP00000264668.2:p.Val247del
ENST00000440940.6:c.657_659del	ENSP00000402510.2:p.Val220del
ENST00000510525.5:c.682_684del
ENST00000511461.5:c.570_572del
ENST00000513439.5:c.*364_*366del	ENSP00000426710.1:n.*364_*366del
ENST00000514220.5:c.442_444del
ENST00000514369.5:c.*321_*323del	ENSP00000426132.1:n.*321_*323del
NM_002454.2:c.657_659del	NP_002445.2:p.Val220del
NM_024010.2:c.738_740del	NP_076915.2:p.Val247del
XM_006714474.2:c.738_740del	XP_006714537.1:p.Val247del
XM_011514043.1:c.738_740del	XP_011512345.1:p.Val247del
XM_011514044.1:c.657_659del	XP_011512346.1:p.Val220del
XM_011514045.1:c.738_740del	XP_011512347.1:p.Val247del
XR_241702.1:n.760_762del
XR_241703.1:n.753_755del
XR_925614.1:n.760_762del
XR_925615.1:n.760_762del
NM_001364440.1:c.657_659del	NP_001351369.1:p.Val220del
NM_001364441.1:c.657_659del	NP_001351370.1:p.Val220del
NM_001364442.1:c.657_659del	NP_001351371.1:p.Val220del
NM_024010.3:c.657_659del	NP_076915.3:p.Val220del
NR_134480.1:n.780_782del
NR_134481.1:n.794_796del
NR_134482.1:n.640_642del
NR_157168.1:n.710_712del
NR_157169.1:n.570_572del
NR_157170.1:n.596_598del
NR_157171.1:n.570_572del
NR_157172.1:n.596_598del
NR_157173.1:n.724_726del
NR_157174.1:n.596_598del
NR_157175.1:n.750_752del
NR_157176.1:n.750_752del
NR_157177.1:n.745_747del
NR_157178.1:n.750_752del
XM_024446063.1:c.702_704del	XP_024301831.1:p.Val235del
XM_024446064.1:c.657_659del	XP_024301832.1:p.Val220del
XR_001742071.1:n.760_762del
XR_001742072.1:n.760_762del
XR_001742074.1:n.760_762del
XR_001742075.1:n.760_762del
XR_001742076.1:n.760_762del
XR_001742077.1:n.760_762del
NM_001364440.2:c.657_659del	NP_001351369.1:p.Val220del
NM_001364441.2:c.657_659del	NP_001351370.1:p.Val220del
NM_001364442.2:c.657_659del	NP_001351371.1:p.Val220del
NM_002454.3:c.657_659del MANE Select	NP_002445.2:p.Val220del
NM_024010.4:c.657_659del	NP_076915.3:p.Val220del
NR_134480.2:n.736_738del
NR_134481.2:n.750_752del
NR_134482.2:n.596_598del
NR_157168.2:n.710_712del
NR_157169.2:n.570_572del
NR_157170.2:n.596_598del
NR_157171.2:n.570_572del
NR_157172.2:n.596_598del
NR_157173.2:n.724_726del
NR_157174.2:n.596_598del
NR_157175.2:n.750_752del
NR_157176.2:n.750_752del
NR_157177.2:n.745_747del
NR_157178.2:n.750_752del