Canonical Allele Identifier: CA2681478063
Gene: BRAT1 HGNC NCBI

Linked Data

gnomAD v4: 7-2539869-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539871del , CM000669.2:g.2539871del GRCh38
NC_000007.13:g.2579505del , CM000669.1:g.2579505del GRCh37
NC_000007.12:g.2546031del NCBI36
NG_032167.1:g.20889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1414del MANE Select ENSP00000339637.4:p.Gln472ArgfsTer8
ENST00000340611.8:c.1414del ENSP00000339637.4:p.Gln472ArgfsTer8
ENST00000467558.5:n.2786del
ENST00000469750.5:n.3986del
ENST00000473879.1:n.130del
ENST00000493232.5:n.4150del
NM_152743.3:c.1414del NP_689956.2:p.Gln472ArgfsTer8
XM_005249643.3:c.1414del XP_005249700.1:p.Gln472ArgfsTer8
XM_011515177.1:c.1498del XP_011513479.1:p.Gln500ArgfsTer8
XM_011515178.1:c.1498del XP_011513480.1:p.Gln500ArgfsTer8
XM_011515179.1:c.1495del XP_011513481.1:p.Gln499ArgfsTer8
XM_011515180.1:c.1468del XP_011513482.1:p.Gln490ArgfsTer8
XM_011515181.1:c.1498del XP_011513483.1:p.Gln500ArgfsTer8
XM_011515182.1:c.1498del XP_011513484.1:p.Gln500ArgfsTer8
XM_011515183.1:c.973del XP_011513485.1:p.Gln325ArgfsTer8
XM_011515184.1:c.973del XP_011513486.1:p.Gln325ArgfsTer8
XM_011515185.1:c.1414del XP_011513487.1:p.Gln472ArgfsTer8
XM_011515186.1:c.1498del XP_011513488.1:p.Gln500ArgfsTer8
XM_011515187.1:c.70del XP_011513489.1:p.Gln24ArgfsTer8
NM_001350626.1:c.1414del NP_001337555.1:p.Gln472ArgfsTer8
NM_001350627.1:c.889del NP_001337556.1:p.Gln297ArgfsTer8
NR_146879.1:n.1831del
XM_011515177.2:c.1498del XP_011513479.1:p.Gln500ArgfsTer8
XM_011515179.2:c.1495del XP_011513481.1:p.Gln499ArgfsTer8
XM_011515181.2:c.1498del XP_011513483.1:p.Gln500ArgfsTer8
XM_011515182.2:c.1498del XP_011513484.1:p.Gln500ArgfsTer8
XM_011515184.3:c.973del XP_011513486.1:p.Gln325ArgfsTer8
XM_011515186.2:c.1498del XP_011513488.1:p.Gln500ArgfsTer8
XM_017011833.1:c.1411del XP_016867322.1:p.Gln471ArgfsTer8
XM_017011834.1:c.1411del XP_016867323.1:p.Gln471ArgfsTer8
XM_017011836.2:c.1414del XP_016867325.1:p.Gln472ArgfsTer8
XM_024446682.1:c.70del XP_024302450.1:p.Gln24ArgfsTer8
NM_152743.4:c.1414del MANE Select NP_689956.2:p.Gln472ArgfsTer8
NM_001350626.2:c.1414del NP_001337555.1:p.Gln472ArgfsTer8
NM_001350627.2:c.889del NP_001337556.1:p.Gln297ArgfsTer8
NR_146879.2:n.1597del