Canonical Allele Identifier: CA2555629032

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 2980123
• ClinVar RCV Id: RCV003837297

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539840del , CM000669.2:g.2539840del	GRCh38
NC_000007.13:g.2579474del , CM000669.1:g.2579474del	GRCh37
NC_000007.12:g.2546000del	NCBI36
NG_032167.1:g.20921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1446del MANE Select	ENSP00000339637.4:p.Lys483ArgfsTer?
ENST00000340611.8:c.1446del	ENSP00000339637.4:p.Lys483ArgfsTer?
ENST00000467558.5:n.2818del
ENST00000469750.5:n.4018del
ENST00000473879.1:n.162del
ENST00000493232.5:n.4182del
NM_152743.3:c.1446del	NP_689956.2:p.Lys483ArgfsTer?
XM_005249643.3:c.1446del	XP_005249700.1:p.Lys483ArgfsTer?
XM_011515177.1:c.1530del	XP_011513479.1:p.Lys511ArgfsTer?
XM_011515178.1:c.1530del	XP_011513480.1:p.Lys511ArgfsTer?
XM_011515179.1:c.1527del	XP_011513481.1:p.Lys510ArgfsTer?
XM_011515180.1:c.1500del	XP_011513482.1:p.Lys501ArgfsTer?
XM_011515181.1:c.1530del	XP_011513483.1:p.Lys511ArgfsTer?
XM_011515182.1:c.1530del	XP_011513484.1:p.Lys511ArgfsTer?
XM_011515183.1:c.1005del	XP_011513485.1:p.Lys336ArgfsTer?
XM_011515184.1:c.1005del	XP_011513486.1:p.Lys336ArgfsTer?
XM_011515185.1:c.1446del	XP_011513487.1:p.Lys483ArgfsTer?
XM_011515186.1:c.1530del	XP_011513488.1:p.Lys511ArgfsTer?
XM_011515187.1:c.102del	XP_011513489.1:p.Lys35ArgfsTer?
NM_001350626.1:c.1446del	NP_001337555.1:p.Lys483ArgfsTer?
NM_001350627.1:c.921del	NP_001337556.1:p.Lys308ArgfsTer?
NR_146879.1:n.1863del
XM_011515177.2:c.1530del	XP_011513479.1:p.Lys511ArgfsTer?
XM_011515179.2:c.1527del	XP_011513481.1:p.Lys510ArgfsTer?
XM_011515181.2:c.1530del	XP_011513483.1:p.Lys511ArgfsTer?
XM_011515182.2:c.1530del	XP_011513484.1:p.Lys511ArgfsTer?
XM_011515184.3:c.1005del	XP_011513486.1:p.Lys336ArgfsTer?
XM_011515186.2:c.1530del	XP_011513488.1:p.Lys511ArgfsTer?
XM_017011833.1:c.1443del	XP_016867322.1:p.Lys482ArgfsTer?
XM_017011834.1:c.1443del	XP_016867323.1:p.Lys482ArgfsTer?
XM_017011836.2:c.1446del	XP_016867325.1:p.Lys483ArgfsTer?
XM_024446682.1:c.102del	XP_024302450.1:p.Lys35ArgfsTer?
NM_152743.4:c.1446del MANE Select	NP_689956.2:p.Lys483ArgfsTer?
NM_001350626.2:c.1446del	NP_001337555.1:p.Lys483ArgfsTer?
NM_001350627.2:c.921del	NP_001337556.1:p.Lys308ArgfsTer?
NR_146879.2:n.1629del