Canonical Allele Identifier: CA2578813055
Gene: BRAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539854_2539878del , CM000669.2:g.2539854_2539878del GRCh38
NC_000007.13:g.2579488_2579512del , CM000669.1:g.2579488_2579512del GRCh37
NC_000007.12:g.2546014_2546038del NCBI36
NG_032167.1:g.20881_20905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1406_1430del MANE Select ENSP00000339637.4:p.Lys469SerfsTer3
ENST00000340611.8:c.1406_1430del ENSP00000339637.4:p.Lys469SerfsTer3
ENST00000467558.5:n.2778_2802del
ENST00000469750.5:n.3978_4002del
ENST00000473879.1:n.122_146del
ENST00000493232.5:n.4142_4166del
NM_152743.3:c.1406_1430del NP_689956.2:p.Lys469SerfsTer3
XM_005249643.3:c.1406_1430del XP_005249700.1:p.Lys469SerfsTer3
XM_011515177.1:c.1490_1514del XP_011513479.1:p.Lys497SerfsTer3
XM_011515178.1:c.1490_1514del XP_011513480.1:p.Lys497SerfsTer3
XM_011515179.1:c.1487_1511del XP_011513481.1:p.Lys496SerfsTer3
XM_011515180.1:c.1460_1484del XP_011513482.1:p.Lys487SerfsTer3
XM_011515181.1:c.1490_1514del XP_011513483.1:p.Lys497SerfsTer3
XM_011515182.1:c.1490_1514del XP_011513484.1:p.Lys497SerfsTer3
XM_011515183.1:c.965_989del XP_011513485.1:p.Lys322SerfsTer3
XM_011515184.1:c.965_989del XP_011513486.1:p.Lys322SerfsTer3
XM_011515185.1:c.1406_1430del XP_011513487.1:p.Lys469SerfsTer3
XM_011515186.1:c.1490_1514del XP_011513488.1:p.Lys497SerfsTer3
XM_011515187.1:c.62_86del XP_011513489.1:p.Lys21SerfsTer3
NM_001350626.1:c.1406_1430del NP_001337555.1:p.Lys469SerfsTer3
NM_001350627.1:c.881_905del NP_001337556.1:p.Lys294SerfsTer3
NR_146879.1:n.1823_1847del
XM_011515177.2:c.1490_1514del XP_011513479.1:p.Lys497SerfsTer3
XM_011515179.2:c.1487_1511del XP_011513481.1:p.Lys496SerfsTer3
XM_011515181.2:c.1490_1514del XP_011513483.1:p.Lys497SerfsTer3
XM_011515182.2:c.1490_1514del XP_011513484.1:p.Lys497SerfsTer3
XM_011515184.3:c.965_989del XP_011513486.1:p.Lys322SerfsTer3
XM_011515186.2:c.1490_1514del XP_011513488.1:p.Lys497SerfsTer3
XM_017011833.1:c.1403_1427del XP_016867322.1:p.Lys468SerfsTer3
XM_017011834.1:c.1403_1427del XP_016867323.1:p.Lys468SerfsTer3
XM_017011836.2:c.1406_1430del XP_016867325.1:p.Lys469SerfsTer3
XM_024446682.1:c.62_86del XP_024302450.1:p.Lys21SerfsTer3
NM_152743.4:c.1406_1430del MANE Select NP_689956.2:p.Lys469SerfsTer3
NM_001350626.2:c.1406_1430del NP_001337555.1:p.Lys469SerfsTer3
NM_001350627.2:c.881_905del NP_001337556.1:p.Lys294SerfsTer3
NR_146879.2:n.1589_1613del