Canonical Allele Identifier: CA3195746

Gene: MTRR

Linked Data

• dbSNP Id: rs11398509
• ExAC: 5:7885782 ATTTT / A
• gnomAD v2: 5-7885782-ATTTT-A
• gnomAD v3: 5-7885669-ATTTT-A
• gnomAD v4: 5-7885669-ATTTT-A
• MyVariant Identifiers: chr5:g.7885783_7885786del (hg19) ; chr5:g.7885670_7885673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885678_7885681del , CM000667.2:g.7885678_7885681del	GRCh38
NC_000005.9:g.7885791_7885794del , CM000667.1:g.7885791_7885794del	GRCh37
NC_000005.8:g.7938791_7938794del	NCBI36
NG_008856.1:g.21575_21578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.904-23_904-20del MANE Select	ENSP00000402510.2:n.904-23_904-20del
ENST00000264668.6:c.985-23_985-20del	ENSP00000264668.2:n.985-23_985-20del
ENST00000440940.6:c.904-23_904-20del	ENSP00000402510.2:n.904-23_904-20del
ENST00000508101.5:n.144-23_144-20del
ENST00000510525.5:c.929-23_929-20del
ENST00000511461.5:c.817-23_817-20del
ENST00000513439.5:c.*611-23_*611-20del	ENSP00000426710.1:n.*611-23_*611-20del
NM_002454.2:c.904-23_904-20del	NP_002445.2:n.904-23_904-20del
NM_024010.2:c.985-23_985-20del	NP_076915.2:n.985-23_985-20del
XM_006714474.2:c.985-23_985-20del	XP_006714537.1:n.985-23_985-20del
XM_011514043.1:c.985-23_985-20del	XP_011512345.1:n.985-23_985-20del
XM_011514044.1:c.904-23_904-20del	XP_011512346.1:n.904-23_904-20del
XM_011514045.1:c.1125-23_1125-20del	XP_011512347.1:n.1125-23_1125-20del
XR_241702.1:n.1007-23_1007-20del
XR_241703.1:n.1000-23_1000-20del
XR_925614.1:n.1007-23_1007-20del
XR_925615.1:n.1007-23_1007-20del
NM_001364440.1:c.904-23_904-20del	NP_001351369.1:n.904-23_904-20del
NM_001364441.1:c.904-23_904-20del	NP_001351370.1:n.904-23_904-20del
NM_001364442.1:c.904-23_904-20del	NP_001351371.1:n.904-23_904-20del
NM_024010.3:c.904-23_904-20del	NP_076915.3:n.904-23_904-20del
NR_134480.1:n.1027-23_1027-20del
NR_134481.1:n.1041-23_1041-20del
NR_134482.1:n.887-23_887-20del
NR_157168.1:n.957-23_957-20del
NR_157169.1:n.817-23_817-20del
NR_157170.1:n.983-23_983-20del
NR_157171.1:n.817-23_817-20del
NR_157172.1:n.843-23_843-20del
NR_157173.1:n.971-23_971-20del
NR_157174.1:n.843-23_843-20del
NR_157175.1:n.997-23_997-20del
NR_157176.1:n.1137-23_1137-20del
NR_157177.1:n.992-23_992-20del
NR_157178.1:n.997-23_997-20del
XM_024446063.1:c.949-23_949-20del	XP_024301831.1:n.949-23_949-20del
XM_024446064.1:c.904-23_904-20del	XP_024301832.1:n.904-23_904-20del
XR_001742071.1:n.1007-23_1007-20del
XR_001742072.1:n.1007-23_1007-20del
XR_001742074.1:n.1007-23_1007-20del
XR_001742075.1:n.1007-23_1007-20del
XR_001742076.1:n.1147-23_1147-20del
XR_001742077.1:n.1147-23_1147-20del
NM_001364440.2:c.904-23_904-20del	NP_001351369.1:n.904-23_904-20del
NM_001364441.2:c.904-23_904-20del	NP_001351370.1:n.904-23_904-20del
NM_001364442.2:c.904-23_904-20del	NP_001351371.1:n.904-23_904-20del
NM_002454.3:c.904-23_904-20del MANE Select	NP_002445.2:n.904-23_904-20del
NM_024010.4:c.904-23_904-20del	NP_076915.3:n.904-23_904-20del
NR_134480.2:n.983-23_983-20del
NR_134481.2:n.997-23_997-20del
NR_134482.2:n.843-23_843-20del
NR_157168.2:n.957-23_957-20del
NR_157169.2:n.817-23_817-20del
NR_157170.2:n.983-23_983-20del
NR_157171.2:n.817-23_817-20del
NR_157172.2:n.843-23_843-20del
NR_157173.2:n.971-23_971-20del
NR_157174.2:n.843-23_843-20del
NR_157175.2:n.997-23_997-20del
NR_157176.2:n.1137-23_1137-20del
NR_157177.2:n.992-23_992-20del
NR_157178.2:n.997-23_997-20del