Canonical Allele Identifier: CA916080701

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 855160
• ClinVar RCV Id: RCV001060359
• dbSNP Id: rs2050861886

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045717_43045718del , CM000679.2:g.43045717_43045718del	GRCh38
NC_000017.10:g.41197734_41197735del , CM000679.1:g.41197734_41197735del	GRCh37
NC_000017.9:g.38451260_38451261del	NCBI36
NG_005905.2:g.172268_172269del , LRG_292:g.172268_172269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5551_5552del	ENSP00000417241.2:p.Thr1851LeufsTer27
ENST00000470026.6:c.5554_5555del	ENSP00000419274.2:p.Thr1852LeufsTer27
ENST00000473961.6:c.5428_5429del	ENSP00000420201.2:p.Thr1810LeufsTer27
ENST00000476777.6:c.5548_5549del	ENSP00000417554.2:p.Thr1850LeufsTer27
ENST00000477152.6:c.5476_5477del	ENSP00000419988.2:p.Thr1826LeufsTer27
ENST00000478531.6:c.2242_2243del	ENSP00000420412.2:p.Thr748LeufsTer27
ENST00000489037.2:c.5476_5477del	ENSP00000420781.2:p.Thr1826LeufsTer27
ENST00000493919.6:c.2104_2105del	ENSP00000418819.2:p.Thr702LeufsTer27
ENST00000494123.6:c.5554_5555del	ENSP00000419103.2:p.Thr1852LeufsTer27
ENST00000497488.2:c.4666_4667del	ENSP00000418986.2:p.Thr1556LeufsTer27
ENST00000618469.2:c.5554_5555del	ENSP00000478114.2:p.Thr1852LeufsTer27
ENST00000634433.2:c.5431_5432del	ENSP00000489431.2:p.Thr1811LeufsTer27
ENST00000644379.2:c.5620_5621del	ENSP00000496570.2:p.Thr1874LeufsTer27
ENST00000644555.2:c.2104_2105del	ENSP00000494614.2:p.Thr702LeufsTer27
ENST00000652672.2:c.5413_5414del	ENSP00000498906.2:p.Thr1805LeufsTer27
ENST00000484087.6:c.2116_2117del	ENSP00000419481.2:p.Thr706LeufsTer27
ENST00000700081.1:n.1437_1438del
ENST00000700082.1:n.918_919del
ENST00000357654.9:c.5554_5555del MANE Select	ENSP00000350283.3:p.Thr1852LeufsTer27
ENST00000471181.7:c.5617_5618del	ENSP00000418960.2:p.Thr1873LeufsTer27
ENST00000644379.1:c.1941_1942del
ENST00000352993.7:c.2128_2129del	ENSP00000312236.5:p.Thr710LeufsTer27
ENST00000357654.7:c.5554_5555del	ENSP00000350283.3:p.Thr1852LeufsTer27
ENST00000461221.5:c.*5337_*5338del	ENSP00000418548.1:n.*5337_*5338del
ENST00000468300.5:c.*68_*69del	ENSP00000417148.1:n.*68_*69del
ENST00000471181.6:c.5617_5618del	ENSP00000418960.2:p.Thr1873LeufsTer27
ENST00000491747.6:c.2242_2243del	ENSP00000420705.2:p.Thr748LeufsTer?
ENST00000493795.5:c.5413_5414del	ENSP00000418775.1:p.Thr1805LeufsTer27
ENST00000586385.5:c.484_485del	ENSP00000465818.1:p.Thr162LeufsTer27
ENST00000591534.5:c.1027_1028del	ENSP00000467329.1:p.Thr343LeufsTer27
ENST00000591849.5:c.253_254del	ENSP00000465347.1:p.Thr85LeufsTer27
NM_007294.3:c.5554_5555del , LRG_292t1:c.5554_5555del	NP_009225.1:p.Thr1852LeufsTer27
NM_007297.3:c.5413_5414del	NP_009228.2:p.Thr1805LeufsTer27
NM_007298.3:c.2242_2243del	NP_009229.2:p.Thr748LeufsTer27
NM_007299.3:c.*68_*69del	NP_009230.2:n.*68_*69del
NM_007300.3:c.5617_5618del	NP_009231.2:p.Thr1873LeufsTer27
NR_027676.1:n.5690_5691del
NM_007294.4:c.5554_5555del MANE Select	NP_009225.1:p.Thr1852LeufsTer27
NM_007297.4:c.5413_5414del	NP_009228.2:p.Thr1805LeufsTer27
NM_007299.4:c.*68_*69del	NP_009230.2:n.*68_*69del
NM_007300.4:c.5617_5618del	NP_009231.2:p.Thr1873LeufsTer27
NR_027676.2:n.5731_5732del