Canonical Allele Identifier: CA2681476638

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2538678-CCACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2538681_2538684del , CM000669.2:g.2538681_2538684del	GRCh38
NC_000007.13:g.2578315_2578318del , CM000669.1:g.2578315_2578318del	GRCh37
NC_000007.12:g.2544841_2544844del	NCBI36
NG_032167.1:g.22077_22080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1853_1856del MANE Select	ENSP00000339637.4:p.Glu618GlyfsTer?
ENST00000340611.8:c.1853_1856del	ENSP00000339637.4:p.Glu618GlyfsTer?
ENST00000467558.5:n.3639_3642del
ENST00000469750.5:n.4425_4428del
ENST00000473879.1:n.396_399del
ENST00000493232.5:n.4559_4562del
NM_152743.3:c.1853_1856del	NP_689956.2:p.Glu618GlyfsTer?
XM_005249643.3:c.2033_2036del	XP_005249700.1:p.Glu678GlyfsTer?
XM_011515177.1:c.2117_2120del	XP_011513479.1:p.Glu706GlyfsTer?
XM_011515178.1:c.2117_2120del	XP_011513480.1:p.Glu706GlyfsTer?
XM_011515179.1:c.2114_2117del	XP_011513481.1:p.Glu705GlyfsTer?
XM_011515180.1:c.2087_2090del	XP_011513482.1:p.Glu696GlyfsTer?
XM_011515181.1:c.1937_1940del	XP_011513483.1:p.Glu646GlyfsTer?
XM_011515182.1:c.2117_2120del	XP_011513484.1:p.Glu706GlyfsTer?
XM_011515183.1:c.1592_1595del	XP_011513485.1:p.Glu531GlyfsTer?
XM_011515184.1:c.1592_1595del	XP_011513486.1:p.Glu531GlyfsTer?
XM_011515185.1:c.1853_1856del	XP_011513487.1:p.Glu618GlyfsTer?
XM_011515186.1:c.1764_*3del	XP_011513488.1:n.[c.1764_*3del;Ter588TrpextTer?]
XM_011515187.1:c.689_692del	XP_011513489.1:p.Glu230GlyfsTer?
NM_001350626.1:c.2033_2036del	NP_001337555.1:p.Glu678GlyfsTer?
NM_001350627.1:c.1328_1331del	NP_001337556.1:p.Glu443GlyfsTer?
NR_146879.1:n.2270_2273del
XM_011515177.2:c.2117_2120del	XP_011513479.1:p.Glu706GlyfsTer?
XM_011515179.2:c.2114_2117del	XP_011513481.1:p.Glu705GlyfsTer?
XM_011515181.2:c.1937_1940del	XP_011513483.1:p.Glu646GlyfsTer?
XM_011515182.2:c.2117_2120del	XP_011513484.1:p.Glu706GlyfsTer?
XM_011515184.3:c.1592_1595del	XP_011513486.1:p.Glu531GlyfsTer?
XM_011515186.2:c.1764_*3del	XP_011513488.1:n.[c.1764_*3del;Ter588TrpextTer?]
XM_017011833.1:c.2030_2033del	XP_016867322.1:p.Glu677GlyfsTer?
XM_017011834.1:c.1850_1853del	XP_016867323.1:p.Glu617GlyfsTer?
XM_017011836.2:c.1680_*3del	XP_016867325.1:n.[c.1680_*3del;Ter560TrpextTer?]
XM_024446682.1:c.689_692del	XP_024302450.1:p.Glu230GlyfsTer?
NM_152743.4:c.1853_1856del MANE Select	NP_689956.2:p.Glu618GlyfsTer?
NM_001350626.2:c.2033_2036del	NP_001337555.1:p.Glu678GlyfsTer?
NM_001350627.2:c.1328_1331del	NP_001337556.1:p.Glu443GlyfsTer?
NR_146879.2:n.2036_2039del