Canonical Allele Identifier: CA3195992

Gene: MTRR

Linked Data

• dbSNP Id: rs747634761
• ExAC: 5:7895880 CA / C
• gnomAD v2: 5-7895880-CA-C
• gnomAD v4: 5-7895767-CA-C
• MyVariant Identifiers: chr5:g.7895881del (hg19) ; chr5:g.7895768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895768del , CM000667.2:g.7895768del	GRCh38
NC_000005.9:g.7895881del , CM000667.1:g.7895881del	GRCh37
NC_000005.8:g.7948881del	NCBI36
NG_008856.1:g.31665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1592del MANE Select	ENSP00000402510.2:p.His531ProfsTer11
ENST00000264668.6:c.1673del	ENSP00000264668.2:p.His558ProfsTer11
ENST00000440940.6:c.1592del	ENSP00000402510.2:p.His531ProfsTer11
ENST00000510525.5:c.1528del
ENST00000511461.5:c.1505del
ENST00000513439.5:c.*1299del	ENSP00000426710.1:n.*1299del
NM_002454.2:c.1592del	NP_002445.2:p.His531ProfsTer11
NM_024010.2:c.1673del	NP_076915.2:p.His558ProfsTer11
XM_011514043.1:c.1673del	XP_011512345.1:p.His558ProfsTer11
XM_011514044.1:c.1592del	XP_011512346.1:p.His531ProfsTer11
XR_241702.1:n.1606del
XR_241703.1:n.1599del
XR_925614.1:n.1718del
NM_001364440.1:c.1592del	NP_001351369.1:p.His531ProfsTer11
NM_001364441.1:c.1592del	NP_001351370.1:p.His531ProfsTer11
NM_001364442.1:c.1592del	NP_001351371.1:p.His531ProfsTer11
NM_024010.3:c.1592del	NP_076915.3:p.His531ProfsTer11
NR_134480.1:n.1715del
NR_134481.1:n.1640del
NR_134482.1:n.1575del
NR_157168.1:n.1645del
NR_157169.1:n.1505del
NR_157170.1:n.1671del
NR_157171.1:n.1528del
NR_157172.1:n.1442del
NR_157173.1:n.1682del
NR_157174.1:n.1683del
NR_157175.1:n.1837del
NR_157176.1:n.2000del
NR_157177.1:n.1680del
NR_157178.1:n.1708del
XM_024446063.1:c.1637del	XP_024301831.1:p.His546ProfsTer11
XM_024446064.1:c.1592del	XP_024301832.1:p.His531ProfsTer11
XR_001742071.1:n.1870del
XR_001742072.1:n.1847del
XR_001742074.1:n.1606del
XR_001742075.1:n.1758del
XR_001742076.1:n.1835del
XR_001742077.1:n.1858del
NM_001364440.2:c.1592del	NP_001351369.1:p.His531ProfsTer11
NM_001364441.2:c.1592del	NP_001351370.1:p.His531ProfsTer11
NM_001364442.2:c.1592del	NP_001351371.1:p.His531ProfsTer11
NM_002454.3:c.1592del MANE Select	NP_002445.2:p.His531ProfsTer11
NM_024010.4:c.1592del	NP_076915.3:p.His531ProfsTer11
NR_134480.2:n.1671del
NR_134481.2:n.1596del
NR_134482.2:n.1531del
NR_157168.2:n.1645del
NR_157169.2:n.1505del
NR_157170.2:n.1671del
NR_157171.2:n.1528del
NR_157172.2:n.1442del
NR_157173.2:n.1682del
NR_157174.2:n.1683del
NR_157175.2:n.1837del
NR_157176.2:n.2000del
NR_157177.2:n.1680del
NR_157178.2:n.1708del