Canonical Allele Identifier: CA2673203623
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7895756-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7895759dup , CM000667.2:g.7895759dup GRCh38
NC_000005.9:g.7895872dup , CM000667.1:g.7895872dup GRCh37
NC_000005.8:g.7948872dup NCBI36
NG_008856.1:g.31656dup

Transcript Alleles

HGVS Amino-acid change
ENST00000440940.7:c.1583dup MANE Select ENSP00000402510.2:p.Asn528LysfsTer8
ENST00000264668.6:c.1664dup ENSP00000264668.2:p.Asn555LysfsTer8
ENST00000440940.6:c.1583dup ENSP00000402510.2:p.Asn528LysfsTer8
ENST00000510525.5:c.1519dup
ENST00000511461.5:c.1496dup
ENST00000513439.5:c.*1290dup ENSP00000426710.1:n.*1290dup
NM_002454.2:c.1583dup NP_002445.2:p.Asn528LysfsTer8
NM_024010.2:c.1664dup NP_076915.2:p.Asn555LysfsTer8
XM_011514043.1:c.1664dup XP_011512345.1:p.Asn555LysfsTer8
XM_011514044.1:c.1583dup XP_011512346.1:p.Asn528LysfsTer8
XR_241702.1:n.1597dup
XR_241703.1:n.1590dup
XR_925614.1:n.1709dup
NM_001364440.1:c.1583dup NP_001351369.1:p.Asn528LysfsTer8
NM_001364441.1:c.1583dup NP_001351370.1:p.Asn528LysfsTer8
NM_001364442.1:c.1583dup NP_001351371.1:p.Asn528LysfsTer8
NM_024010.3:c.1583dup NP_076915.3:p.Asn528LysfsTer8
NR_134480.1:n.1706dup
NR_134481.1:n.1631dup
NR_134482.1:n.1566dup
NR_157168.1:n.1636dup
NR_157169.1:n.1496dup
NR_157170.1:n.1662dup
NR_157171.1:n.1519dup
NR_157172.1:n.1433dup
NR_157173.1:n.1673dup
NR_157174.1:n.1674dup
NR_157175.1:n.1828dup
NR_157176.1:n.1991dup
NR_157177.1:n.1671dup
NR_157178.1:n.1699dup
XM_024446063.1:c.1628dup XP_024301831.1:p.Asn543LysfsTer8
XM_024446064.1:c.1583dup XP_024301832.1:p.Asn528LysfsTer8
XR_001742071.1:n.1861dup
XR_001742072.1:n.1838dup
XR_001742074.1:n.1597dup
XR_001742075.1:n.1749dup
XR_001742076.1:n.1826dup
XR_001742077.1:n.1849dup
NM_001364440.2:c.1583dup NP_001351369.1:p.Asn528LysfsTer8
NM_001364441.2:c.1583dup NP_001351370.1:p.Asn528LysfsTer8
NM_001364442.2:c.1583dup NP_001351371.1:p.Asn528LysfsTer8
NM_002454.3:c.1583dup MANE Select NP_002445.2:p.Asn528LysfsTer8
NM_024010.4:c.1583dup NP_076915.3:p.Asn528LysfsTer8
NR_134480.2:n.1662dup
NR_134481.2:n.1587dup
NR_134482.2:n.1522dup
NR_157168.2:n.1636dup
NR_157169.2:n.1496dup
NR_157170.2:n.1662dup
NR_157171.2:n.1519dup
NR_157172.2:n.1433dup
NR_157173.2:n.1673dup
NR_157174.2:n.1674dup
NR_157175.2:n.1828dup
NR_157176.2:n.1991dup
NR_157177.2:n.1671dup
NR_157178.2:n.1699dup