Canonical Allele Identifier: CA2681478005

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539806-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539811del , CM000669.2:g.2539811del	GRCh38
NC_000007.13:g.2579445del , CM000669.1:g.2579445del	GRCh37
NC_000007.12:g.2545971del	NCBI36
NG_032167.1:g.20952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1477del MANE Select	ENSP00000339637.4:p.Leu493SerfsTer24
ENST00000340611.8:c.1477del	ENSP00000339637.4:p.Leu493SerfsTer24
ENST00000467558.5:n.2849del
ENST00000469750.5:n.4049del
ENST00000473879.1:n.193del
ENST00000493232.5:n.4213del
NM_152743.3:c.1477del	NP_689956.2:p.Leu493SerfsTer24
XM_005249643.3:c.1477del	XP_005249700.1:p.Leu493SerfsTer24
XM_011515177.1:c.1561del	XP_011513479.1:p.Leu521SerfsTer24
XM_011515178.1:c.1561del	XP_011513480.1:p.Leu521SerfsTer24
XM_011515179.1:c.1558del	XP_011513481.1:p.Leu520SerfsTer24
XM_011515180.1:c.1531del	XP_011513482.1:p.Leu511SerfsTer24
XM_011515181.1:c.1561del	XP_011513483.1:p.Leu521SerfsTer24
XM_011515182.1:c.1561del	XP_011513484.1:p.Leu521SerfsTer24
XM_011515183.1:c.1036del	XP_011513485.1:p.Leu346SerfsTer24
XM_011515184.1:c.1036del	XP_011513486.1:p.Leu346SerfsTer24
XM_011515185.1:c.1477del	XP_011513487.1:p.Leu493SerfsTer24
XM_011515186.1:c.1561del	XP_011513488.1:p.Leu521SerfsTer24
XM_011515187.1:c.133del	XP_011513489.1:p.Leu45SerfsTer24
NM_001350626.1:c.1477del	NP_001337555.1:p.Leu493SerfsTer24
NM_001350627.1:c.952del	NP_001337556.1:p.Leu318SerfsTer24
NR_146879.1:n.1894del
XM_011515177.2:c.1561del	XP_011513479.1:p.Leu521SerfsTer24
XM_011515179.2:c.1558del	XP_011513481.1:p.Leu520SerfsTer24
XM_011515181.2:c.1561del	XP_011513483.1:p.Leu521SerfsTer24
XM_011515182.2:c.1561del	XP_011513484.1:p.Leu521SerfsTer24
XM_011515184.3:c.1036del	XP_011513486.1:p.Leu346SerfsTer24
XM_011515186.2:c.1561del	XP_011513488.1:p.Leu521SerfsTer24
XM_017011833.1:c.1474del	XP_016867322.1:p.Leu492SerfsTer24
XM_017011834.1:c.1474del	XP_016867323.1:p.Leu492SerfsTer24
XM_017011836.2:c.1477del	XP_016867325.1:p.Leu493SerfsTer24
XM_024446682.1:c.133del	XP_024302450.1:p.Leu45SerfsTer24
NM_152743.4:c.1477del MANE Select	NP_689956.2:p.Leu493SerfsTer24
NM_001350626.2:c.1477del	NP_001337555.1:p.Leu493SerfsTer24
NM_001350627.2:c.952del	NP_001337556.1:p.Leu318SerfsTer24
NR_146879.2:n.1660del