Canonical Allele Identifier: CA1072980437

Gene: MTRR

Linked Data

• gnomAD v3: 5-7885701-A-ATTTTTTTT
• gnomAD v4: 5-7885701-A-ATTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885701_7885702insTTTTTTTT , CM000667.2:g.7885701_7885702insTTTTTTTT	GRCh38
NC_000005.9:g.7885814_7885815insTTTTTTTT , CM000667.1:g.7885814_7885815insTTTTTTTT	GRCh37
NC_000005.8:g.7938814_7938815insTTTTTTTT	NCBI36
NG_008856.1:g.21598_21599insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.904_905insTTTTTTTT MANE Select	ENSP00000402510.2:p.Asn302IlefsTer17
ENST00000264668.6:c.985_986insTTTTTTTT	ENSP00000264668.2:p.Asn329IlefsTer17
ENST00000440940.6:c.904_905insTTTTTTTT	ENSP00000402510.2:p.Asn302IlefsTer17
ENST00000508101.5:n.144_145insTTTTTTTT
ENST00000510525.5:c.929_930insTTTTTTTT
ENST00000511461.5:c.817_818insTTTTTTTT
ENST00000513439.5:c.*611_*612insTTTTTTTT	ENSP00000426710.1:n.*611_*612insTTTTTTTT
NM_002454.2:c.904_905insTTTTTTTT	NP_002445.2:p.Asn302IlefsTer17
NM_024010.2:c.985_986insTTTTTTTT	NP_076915.2:p.Asn329IlefsTer17
XM_006714474.2:c.985_986insTTTTTTTT	XP_006714537.1:p.Asn329IlefsTer17
XM_011514043.1:c.985_986insTTTTTTTT	XP_011512345.1:p.Asn329IlefsTer17
XM_011514044.1:c.904_905insTTTTTTTT	XP_011512346.1:p.Asn302IlefsTer17
XM_011514045.1:c.1125_1126insTTTTTTTT	XP_011512347.1:p.Ile376PhefsTer20
XR_241702.1:n.1007_1008insTTTTTTTT
XR_241703.1:n.1000_1001insTTTTTTTT
XR_925614.1:n.1007_1008insTTTTTTTT
XR_925615.1:n.1007_1008insTTTTTTTT
NM_001364440.1:c.904_905insTTTTTTTT	NP_001351369.1:p.Asn302IlefsTer17
NM_001364441.1:c.904_905insTTTTTTTT	NP_001351370.1:p.Asn302IlefsTer17
NM_001364442.1:c.904_905insTTTTTTTT	NP_001351371.1:p.Asn302IlefsTer17
NM_024010.3:c.904_905insTTTTTTTT	NP_076915.3:p.Asn302IlefsTer17
NR_134480.1:n.1027_1028insTTTTTTTT
NR_134481.1:n.1041_1042insTTTTTTTT
NR_134482.1:n.887_888insTTTTTTTT
NR_157168.1:n.957_958insTTTTTTTT
NR_157169.1:n.817_818insTTTTTTTT
NR_157170.1:n.983_984insTTTTTTTT
NR_157171.1:n.817_818insTTTTTTTT
NR_157172.1:n.843_844insTTTTTTTT
NR_157173.1:n.971_972insTTTTTTTT
NR_157174.1:n.843_844insTTTTTTTT
NR_157175.1:n.997_998insTTTTTTTT
NR_157176.1:n.1137_1138insTTTTTTTT
NR_157177.1:n.992_993insTTTTTTTT
NR_157178.1:n.997_998insTTTTTTTT
XM_024446063.1:c.949_950insTTTTTTTT	XP_024301831.1:p.Asn317IlefsTer17
XM_024446064.1:c.904_905insTTTTTTTT	XP_024301832.1:p.Asn302IlefsTer17
XR_001742071.1:n.1007_1008insTTTTTTTT
XR_001742072.1:n.1007_1008insTTTTTTTT
XR_001742074.1:n.1007_1008insTTTTTTTT
XR_001742075.1:n.1007_1008insTTTTTTTT
XR_001742076.1:n.1147_1148insTTTTTTTT
XR_001742077.1:n.1147_1148insTTTTTTTT
NM_001364440.2:c.904_905insTTTTTTTT	NP_001351369.1:p.Asn302IlefsTer17
NM_001364441.2:c.904_905insTTTTTTTT	NP_001351370.1:p.Asn302IlefsTer17
NM_001364442.2:c.904_905insTTTTTTTT	NP_001351371.1:p.Asn302IlefsTer17
NM_002454.3:c.904_905insTTTTTTTT MANE Select	NP_002445.2:p.Asn302IlefsTer17
NM_024010.4:c.904_905insTTTTTTTT	NP_076915.3:p.Asn302IlefsTer17
NR_134480.2:n.983_984insTTTTTTTT
NR_134481.2:n.997_998insTTTTTTTT
NR_134482.2:n.843_844insTTTTTTTT
NR_157168.2:n.957_958insTTTTTTTT
NR_157169.2:n.817_818insTTTTTTTT
NR_157170.2:n.983_984insTTTTTTTT
NR_157171.2:n.817_818insTTTTTTTT
NR_157172.2:n.843_844insTTTTTTTT
NR_157173.2:n.971_972insTTTTTTTT
NR_157174.2:n.843_844insTTTTTTTT
NR_157175.2:n.997_998insTTTTTTTT
NR_157176.2:n.1137_1138insTTTTTTTT
NR_157177.2:n.992_993insTTTTTTTT
NR_157178.2:n.997_998insTTTTTTTT