Canonical Allele Identifier: CA129742

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 31199
• ClinVar RCV Id: RCV000024198 ; RCV000210714 ; RCV000268435 ; RCV000677127 ; RCV003335054
• dbSNP Id: rs730880324
• ExAC: 7:2583388 C / CT
• gnomAD v2: 7-2583388-C-CT
• gnomAD v3: 7-2543754-C-CT
• gnomAD v4: 7-2543754-C-CT
• COSMIC: COSM1683388
• MyVariant Identifiers: chr7:g.2583389dupT (hg19) ; chr7:g.2583388_2583389insT (hg19) ; chr7:g.2543755dupT (hg38) ; chr7:g.2543754_2543755insT (hg38)
• PubMed: PMID:16452482 ; PMID:22279524 ; PMID:23035047 ; PMID:26494257 ; PMID:26535877 ; PMID:27282546 ; PMID:27282648 ; PMID:27480663 ; PMID:28635423

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2543756dup , CM000669.2:g.2543756dup	GRCh38
NC_000007.13:g.2583390dup , CM000669.1:g.2583390dup	GRCh37
NC_000007.12:g.2549916dup	NCBI36
NG_032167.1:g.17004dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000340611.9:c.638dup MANE Select	ENSP00000339637.4:p.Val214GlyfsTer?
ENST00000340611.8:c.638dup	ENSP00000339637.4:p.Val214GlyfsTer?
ENST00000421712.1:c.490dup	ENSP00000409209.2:p.Arg164LysfsTer?
ENST00000467558.5:n.654dup
ENST00000469750.5:n.862dup
ENST00000493232.5:n.498dup
NM_152743.3:c.638dup	NP_689956.2:p.Val214GlyfsTer?
XM_005249643.3:c.638dup	XP_005249700.1:p.Val214GlyfsTer?
XM_011515177.1:c.638dup	XP_011513479.1:p.Val214GlyfsTer?
XM_011515178.1:c.638dup	XP_011513480.1:p.Val214GlyfsTer?
XM_011515179.1:c.635dup	XP_011513481.1:p.Val213GlyfsTer?
XM_011515180.1:c.608dup	XP_011513482.1:p.Val204GlyfsTer?
XM_011515181.1:c.638dup	XP_011513483.1:p.Val214GlyfsTer?
XM_011515182.1:c.638dup	XP_011513484.1:p.Val214GlyfsTer?
XM_011515183.1:c.113dup	XP_011513485.1:p.Val39GlyfsTer?
XM_011515184.1:c.113dup	XP_011513486.1:p.Val39GlyfsTer?
XM_011515185.1:c.638dup	XP_011513487.1:p.Val214GlyfsTer?
XM_011515186.1:c.638dup	XP_011513488.1:p.Val214GlyfsTer?
NM_001350626.1:c.638dup	NP_001337555.1:p.Val214GlyfsTer?
NM_001350627.1:c.113dup	NP_001337556.1:p.Val39GlyfsTer?
NR_146879.1:n.931dup
XM_011515177.2:c.638dup	XP_011513479.1:p.Val214GlyfsTer?
XM_011515179.2:c.635dup	XP_011513481.1:p.Val213GlyfsTer?
XM_011515181.2:c.638dup	XP_011513483.1:p.Val214GlyfsTer?
XM_011515182.2:c.638dup	XP_011513484.1:p.Val214GlyfsTer?
XM_011515184.3:c.113dup	XP_011513486.1:p.Val39GlyfsTer?
XM_011515186.2:c.638dup	XP_011513488.1:p.Val214GlyfsTer?
XM_017011833.1:c.635dup	XP_016867322.1:p.Val213GlyfsTer?
XM_017011834.1:c.635dup	XP_016867323.1:p.Val213GlyfsTer?
XM_017011836.2:c.638dup	XP_016867325.1:p.Val214GlyfsTer?
NM_152743.4:c.638dup MANE Select	NP_689956.2:p.Val214GlyfsTer?
NM_001350626.2:c.638dup	NP_001337555.1:p.Val214GlyfsTer?
NM_001350627.2:c.113dup	NP_001337556.1:p.Val39GlyfsTer?
NR_146879.2:n.697dup