Canonical Allele Identifier: CA1683199355

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 1035992
• ClinVar RCV Id: RCV001338936
• dbSNP Id: rs1779011289

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539881_2539883del , CM000669.2:g.2539881_2539883del	GRCh38
NC_000007.13:g.2579515_2579517del , CM000669.1:g.2579515_2579517del	GRCh37
NC_000007.12:g.2546041_2546043del	NCBI36
NG_032167.1:g.20880_20882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1405_1407del MANE Select	ENSP00000339637.4:p.Lys469del
ENST00000340611.8:c.1405_1407del	ENSP00000339637.4:p.Lys469del
ENST00000467558.5:n.2777_2779del
ENST00000469750.5:n.3977_3979del
ENST00000473879.1:n.121_123del
ENST00000493232.5:n.4141_4143del
NM_152743.3:c.1405_1407del	NP_689956.2:p.Lys469del
XM_005249643.3:c.1405_1407del	XP_005249700.1:p.Lys469del
XM_011515177.1:c.1489_1491del	XP_011513479.1:p.Lys497del
XM_011515178.1:c.1489_1491del	XP_011513480.1:p.Lys497del
XM_011515179.1:c.1486_1488del	XP_011513481.1:p.Lys496del
XM_011515180.1:c.1459_1461del	XP_011513482.1:p.Lys487del
XM_011515181.1:c.1489_1491del	XP_011513483.1:p.Lys497del
XM_011515182.1:c.1489_1491del	XP_011513484.1:p.Lys497del
XM_011515183.1:c.964_966del	XP_011513485.1:p.Lys322del
XM_011515184.1:c.964_966del	XP_011513486.1:p.Lys322del
XM_011515185.1:c.1405_1407del	XP_011513487.1:p.Lys469del
XM_011515186.1:c.1489_1491del	XP_011513488.1:p.Lys497del
XM_011515187.1:c.61_63del	XP_011513489.1:p.Lys21del
NM_001350626.1:c.1405_1407del	NP_001337555.1:p.Lys469del
NM_001350627.1:c.880_882del	NP_001337556.1:p.Lys294del
NR_146879.1:n.1822_1824del
XM_011515177.2:c.1489_1491del	XP_011513479.1:p.Lys497del
XM_011515179.2:c.1486_1488del	XP_011513481.1:p.Lys496del
XM_011515181.2:c.1489_1491del	XP_011513483.1:p.Lys497del
XM_011515182.2:c.1489_1491del	XP_011513484.1:p.Lys497del
XM_011515184.3:c.964_966del	XP_011513486.1:p.Lys322del
XM_011515186.2:c.1489_1491del	XP_011513488.1:p.Lys497del
XM_017011833.1:c.1402_1404del	XP_016867322.1:p.Lys468del
XM_017011834.1:c.1402_1404del	XP_016867323.1:p.Lys468del
XM_017011836.2:c.1405_1407del	XP_016867325.1:p.Lys469del
XM_024446682.1:c.61_63del	XP_024302450.1:p.Lys21del
NM_152743.4:c.1405_1407del MANE Select	NP_689956.2:p.Lys469del
NM_001350626.2:c.1405_1407del	NP_001337555.1:p.Lys469del
NM_001350627.2:c.880_882del	NP_001337556.1:p.Lys294del
NR_146879.2:n.1588_1590del