Canonical Allele Identifier: CA312757

Gene: MTRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7886648_7886650del , CM000667.2:g.7886648_7886650del	GRCh38
NC_000005.9:g.7886761_7886763del , CM000667.1:g.7886761_7886763del	GRCh37
NC_000005.8:g.7939761_7939763del	NCBI36
NG_008856.1:g.22545_22547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1091_1093del MANE Select	ENSP00000402510.2:p.Cys364del
ENST00000264668.6:c.1172_1174del	ENSP00000264668.2:p.Cys391del
ENST00000440940.6:c.1091_1093del	ENSP00000402510.2:p.Cys364del
ENST00000508101.5:n.331_333del
ENST00000509961.5:n.104_106del
ENST00000510525.5:c.1082+794_1082+796del
ENST00000511461.5:c.1004_1006del
ENST00000512311.5:n.70_72del
ENST00000513439.5:c.*798_*800del	ENSP00000426710.1:n.*798_*800del
NM_002454.2:c.1091_1093del	NP_002445.2:p.Cys364del
NM_024010.2:c.1172_1174del	NP_076915.2:p.Cys391del
XM_006714474.2:c.1172_1174del	XP_006714537.1:p.Cys391del
XM_011514043.1:c.1172_1174del	XP_011512345.1:p.Cys391del
XM_011514044.1:c.1091_1093del	XP_011512346.1:p.Cys364del
XR_241702.1:n.1160+794_1160+796del
XR_241703.1:n.1153+794_1153+796del
XR_925614.1:n.1194_1196del
XR_925615.1:n.1194_1196del
NM_001364440.1:c.1091_1093del	NP_001351369.1:p.Cys364del
NM_001364441.1:c.1091_1093del	NP_001351370.1:p.Cys364del
NM_001364442.1:c.1091_1093del	NP_001351371.1:p.Cys364del
NM_024010.3:c.1091_1093del	NP_076915.3:p.Cys364del
NR_134480.1:n.1214_1216del
NR_134481.1:n.1194+794_1194+796del
NR_134482.1:n.1074_1076del
NR_157168.1:n.1144_1146del
NR_157169.1:n.1004_1006del
NR_157170.1:n.1170_1172del
NR_157171.1:n.1004_1006del
NR_157172.1:n.996+794_996+796del
NR_157173.1:n.1158_1160del
NR_157174.1:n.1030_1032del
NR_157175.1:n.1184_1186del
NR_157176.1:n.1324_1326del
NR_157177.1:n.1179_1181del
NR_157178.1:n.1184_1186del
XM_024446063.1:c.1136_1138del	XP_024301831.1:p.Cys379del
XM_024446064.1:c.1091_1093del	XP_024301832.1:p.Cys364del
XR_001742071.1:n.1194_1196del
XR_001742072.1:n.1194_1196del
XR_001742074.1:n.1160+794_1160+796del
XR_001742075.1:n.1160+794_1160+796del
XR_001742076.1:n.1334_1336del
XR_001742077.1:n.1334_1336del
NM_001364440.2:c.1091_1093del	NP_001351369.1:p.Cys364del
NM_001364441.2:c.1091_1093del	NP_001351370.1:p.Cys364del
NM_001364442.2:c.1091_1093del	NP_001351371.1:p.Cys364del
NM_002454.3:c.1091_1093del MANE Select	NP_002445.2:p.Cys364del
NM_024010.4:c.1091_1093del	NP_076915.3:p.Cys364del
NR_134480.2:n.1170_1172del
NR_134481.2:n.1150+794_1150+796del
NR_134482.2:n.1030_1032del
NR_157168.2:n.1144_1146del
NR_157169.2:n.1004_1006del
NR_157170.2:n.1170_1172del
NR_157171.2:n.1004_1006del
NR_157172.2:n.996+794_996+796del
NR_157173.2:n.1158_1160del
NR_157174.2:n.1030_1032del
NR_157175.2:n.1184_1186del
NR_157176.2:n.1324_1326del
NR_157177.2:n.1179_1181del
NR_157178.2:n.1184_1186del