Canonical Allele Identifier: CA2681478076
Gene: BRAT1 HGNC NCBI

Linked Data

gnomAD v4: 7-2539899-T-TA

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539900dup , CM000669.2:g.2539900dup GRCh38
NC_000007.13:g.2579534dup , CM000669.1:g.2579534dup GRCh37
NC_000007.12:g.2546060dup NCBI36
NG_032167.1:g.20859dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1396-12dup MANE Select ENSP00000339637.4:n.1396-12dup
ENST00000340611.8:c.1396-12dup ENSP00000339637.4:n.1396-12dup
ENST00000467558.5:n.2756dup
ENST00000469750.5:n.3956dup
ENST00000473879.1:n.112-12dup
ENST00000493232.5:n.4120dup
NM_152743.3:c.1396-12dup NP_689956.2:n.1396-12dup
XM_005249643.3:c.1396-12dup XP_005249700.1:n.1396-12dup
XM_011515177.1:c.1468dup XP_011513479.1:p.Tyr490LeufsTer28
XM_011515178.1:c.1468dup XP_011513480.1:p.Tyr490LeufsTer28
XM_011515179.1:c.1465dup XP_011513481.1:p.Tyr489LeufsTer28
XM_011515180.1:c.1438dup XP_011513482.1:p.Tyr480LeufsTer28
XM_011515181.1:c.1468dup XP_011513483.1:p.Tyr490LeufsTer28
XM_011515182.1:c.1468dup XP_011513484.1:p.Tyr490LeufsTer28
XM_011515183.1:c.943dup XP_011513485.1:p.Tyr315LeufsTer28
XM_011515184.1:c.943dup XP_011513486.1:p.Tyr315LeufsTer28
XM_011515185.1:c.1396-12dup XP_011513487.1:n.1396-12dup
XM_011515186.1:c.1468dup XP_011513488.1:p.Tyr490LeufsTer28
XM_011515187.1:c.52-12dup XP_011513489.1:n.52-12dup
NM_001350626.1:c.1396-12dup NP_001337555.1:n.1396-12dup
NM_001350627.1:c.871-12dup NP_001337556.1:n.871-12dup
NR_146879.1:n.1813-12dup
XM_011515177.2:c.1468dup XP_011513479.1:p.Tyr490LeufsTer28
XM_011515179.2:c.1465dup XP_011513481.1:p.Tyr489LeufsTer28
XM_011515181.2:c.1468dup XP_011513483.1:p.Tyr490LeufsTer28
XM_011515182.2:c.1468dup XP_011513484.1:p.Tyr490LeufsTer28
XM_011515184.3:c.943dup XP_011513486.1:p.Tyr315LeufsTer28
XM_011515186.2:c.1468dup XP_011513488.1:p.Tyr490LeufsTer28
XM_017011833.1:c.1393-12dup XP_016867322.1:n.1393-12dup
XM_017011834.1:c.1393-12dup XP_016867323.1:n.1393-12dup
XM_017011836.2:c.1396-12dup XP_016867325.1:n.1396-12dup
XM_024446682.1:c.52-12dup XP_024302450.1:n.52-12dup
NM_152743.4:c.1396-12dup MANE Select NP_689956.2:n.1396-12dup
NM_001350626.2:c.1396-12dup NP_001337555.1:n.1396-12dup
NM_001350627.2:c.871-12dup NP_001337556.1:n.871-12dup
NR_146879.2:n.1579-12dup