Canonical Allele Identifier: CA2580094428

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2431294
• ClinVar RCV Id: RCV003140354

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076500_43076503del , CM000679.2:g.43076500_43076503del	GRCh38
NC_000017.10:g.41228517_41228520del , CM000679.1:g.41228517_41228520del	GRCh37
NC_000017.9:g.38482043_38482046del	NCBI36
NG_005905.2:g.141482_141485del , LRG_292:g.141482_141485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4467_4470del	ENSP00000417241.2:p.Pro1490GlufsTer13
ENST00000470026.6:c.4470_4473del	ENSP00000419274.2:p.Pro1491GlufsTer13
ENST00000473961.6:c.4344_4347del	ENSP00000420201.2:p.Pro1449GlufsTer13
ENST00000476777.6:c.4464_4467del	ENSP00000417554.2:p.Pro1489GlufsTer13
ENST00000477152.6:c.4392_4395del	ENSP00000419988.2:p.Pro1465GlufsTer13
ENST00000478531.6:c.1158_1161del	ENSP00000420412.2:p.Pro387GlufsTer13
ENST00000489037.2:c.4392_4395del	ENSP00000420781.2:p.Pro1465GlufsTer13
ENST00000493919.6:c.1020_1023del	ENSP00000418819.2:p.Pro341GlufsTer13
ENST00000494123.6:c.4470_4473del	ENSP00000419103.2:p.Pro1491GlufsTer13
ENST00000497488.2:c.3582_3585del	ENSP00000418986.2:p.Pro1195GlufsTer13
ENST00000618469.2:c.4470_4473del	ENSP00000478114.2:p.Pro1491GlufsTer13
ENST00000634433.2:c.4347_4350del	ENSP00000489431.2:p.Pro1450GlufsTer13
ENST00000644379.2:c.4536_4539del	ENSP00000496570.2:p.Pro1513GlufsTer13
ENST00000644555.2:c.1020_1023del	ENSP00000494614.2:p.Pro341GlufsTer13
ENST00000652672.2:c.4329_4332del	ENSP00000498906.2:p.Pro1444GlufsTer13
ENST00000484087.6:c.1032_1035del	ENSP00000419481.2:p.Pro345GlufsTer13
ENST00000700182.1:c.1077_1080del	ENSP00000514849.1:p.Pro360GlufsTer13
ENST00000357654.9:c.4470_4473del MANE Select	ENSP00000350283.3:p.Pro1491GlufsTer13
ENST00000471181.7:c.4533_4536del	ENSP00000418960.2:p.Pro1512GlufsTer13
ENST00000644379.1:c.857_860del
ENST00000352993.7:c.1044_1047del	ENSP00000312236.5:p.Pro349GlufsTer13
ENST00000357654.7:c.4470_4473del	ENSP00000350283.3:p.Pro1491GlufsTer13
ENST00000461221.5:c.*4253_*4256del	ENSP00000418548.1:n.*4253_*4256del
ENST00000468300.5:c.1158_1161del	ENSP00000417148.1:p.Pro387GlufsTer13
ENST00000471181.6:c.4533_4536del	ENSP00000418960.2:p.Pro1512GlufsTer13
ENST00000478531.5:c.1158_1161del	ENSP00000420412.1:p.Pro387GlufsTer13
ENST00000484087.5:c.783_786del	ENSP00000419481.1:p.Pro262GlufsTer13
ENST00000487825.5:c.786_789del	ENSP00000418212.1:p.Pro263GlufsTer?
ENST00000491747.6:c.1158_1161del	ENSP00000420705.2:p.Pro387GlufsTer13
ENST00000493795.5:c.4329_4332del	ENSP00000418775.1:p.Pro1444GlufsTer13
ENST00000493919.5:c.1020_1023del	ENSP00000418819.1:p.Pro341GlufsTer13
ENST00000586385.5:c.5-12551_5-12548del	ENSP00000465818.1:n.5-12551_5-12548del
ENST00000591534.5:c.-43-1981_-43-1978del	ENSP00000467329.1:n.-43-1981_-43-1978del
ENST00000591849.5:c.-98-26312_-98-26309del	ENSP00000465347.1:n.-98-26312_-98-26309del
ENST00000621897.1:n.361_364del
NM_007294.3:c.4470_4473del , LRG_292t1:c.4470_4473del	NP_009225.1:p.Pro1491GlufsTer13
NM_007297.3:c.4329_4332del	NP_009228.2:p.Pro1444GlufsTer13
NM_007298.3:c.1158_1161del	NP_009229.2:p.Pro387GlufsTer13
NM_007299.3:c.1158_1161del	NP_009230.2:p.Pro387GlufsTer13
NM_007300.3:c.4533_4536del	NP_009231.2:p.Pro1512GlufsTer13
NR_027676.1:n.4606_4609del
NM_007294.4:c.4470_4473del MANE Select	NP_009225.1:p.Pro1491GlufsTer13
NM_007297.4:c.4329_4332del	NP_009228.2:p.Pro1444GlufsTer13
NM_007299.4:c.1158_1161del	NP_009230.2:p.Pro387GlufsTer13
NM_007300.4:c.4533_4536del	NP_009231.2:p.Pro1512GlufsTer13
NR_027676.2:n.4647_4650del