Canonical Allele Identifier: CA2681477196

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539183-CGGGCCTCTGCATGCTCAGGGCTGGTGGGGGCGTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539186_2539221del , CM000669.2:g.2539186_2539221del	GRCh38
NC_000007.13:g.2578820_2578855del , CM000669.1:g.2578820_2578855del	GRCh37
NC_000007.12:g.2545346_2545381del	NCBI36
NG_032167.1:g.21540_21575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340611.9:c.1730_1765del MANE Select	ENSP00000339637.4:p.Leu577_Ala588del
ENST00000340611.8:c.1730_1765del	ENSP00000339637.4:p.Leu577_Ala588del
ENST00000467558.5:n.3102_3137del
ENST00000469750.5:n.4302_4337del
ENST00000473879.1:n.313+325_313+360del
ENST00000493232.5:n.4476+325_4476+360del
NM_152743.3:c.1730_1765del	NP_689956.2:p.Leu577_Ala588del
XM_005249643.3:c.1730_1765del	XP_005249700.1:p.Leu577_Ala588del
XM_011515177.1:c.1814_1849del	XP_011513479.1:p.Leu605_Ala616del
XM_011515178.1:c.1814_1849del	XP_011513480.1:p.Leu605_Ala616del
XM_011515179.1:c.1811_1846del	XP_011513481.1:p.Leu604_Ala615del
XM_011515180.1:c.1784_1819del	XP_011513482.1:p.Leu595_Ala606del
XM_011515181.1:c.1814_1849del	XP_011513483.1:p.Leu605_Ala616del
XM_011515182.1:c.1814_1849del	XP_011513484.1:p.Leu605_Ala616del
XM_011515183.1:c.1289_1324del	XP_011513485.1:p.Leu430_Ala441del
XM_011515184.1:c.1289_1324del	XP_011513486.1:p.Leu430_Ala441del
XM_011515185.1:c.1730_1765del	XP_011513487.1:p.Leu577_Ala588del
XM_011515186.1:c.1681+325_1681+360del	XP_011513488.1:n.1681+325_1681+360del
XM_011515187.1:c.386_421del	XP_011513489.1:p.Leu129_Ala140del
NM_001350626.1:c.1730_1765del	NP_001337555.1:p.Leu577_Ala588del
NM_001350627.1:c.1205_1240del	NP_001337556.1:p.Leu402_Ala413del
NR_146879.1:n.2147_2182del
XM_011515177.2:c.1814_1849del	XP_011513479.1:p.Leu605_Ala616del
XM_011515179.2:c.1811_1846del	XP_011513481.1:p.Leu604_Ala615del
XM_011515181.2:c.1814_1849del	XP_011513483.1:p.Leu605_Ala616del
XM_011515182.2:c.1814_1849del	XP_011513484.1:p.Leu605_Ala616del
XM_011515184.3:c.1289_1324del	XP_011513486.1:p.Leu430_Ala441del
XM_011515186.2:c.1681+325_1681+360del	XP_011513488.1:n.1681+325_1681+360del
XM_017011833.1:c.1727_1762del	XP_016867322.1:p.Leu576_Ala587del
XM_017011834.1:c.1727_1762del	XP_016867323.1:p.Leu576_Ala587del
XM_017011836.2:c.1597+325_1597+360del	XP_016867325.1:n.1597+325_1597+360del
XM_024446682.1:c.386_421del	XP_024302450.1:p.Leu129_Ala140del
NM_152743.4:c.1730_1765del MANE Select	NP_689956.2:p.Leu577_Ala588del
NM_001350626.2:c.1730_1765del	NP_001337555.1:p.Leu577_Ala588del
NM_001350627.2:c.1205_1240del	NP_001337556.1:p.Leu402_Ala413del
NR_146879.2:n.1913_1948del