Canonical Allele Identifier: CA2580612680

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2573283
• ClinVar RCV Id: RCV003316972

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092919_43092923delinsAGAGG , CM000679.2:g.43092919_43092923delinsAGAGG	GRCh38
NC_000017.10:g.41244936_41244940delinsAGAGG , CM000679.1:g.41244936_41244940delinsAGAGG	GRCh37
NC_000017.9:g.38498462_38498466delinsAGAGG	NCBI36
NG_005905.2:g.125061_125065delinsCCTCT , LRG_292:g.125061_125065delinsCCTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2672_2676delinsCCTCT
ENST00000461574.2:c.2608_2612delinsCCTCT	ENSP00000417241.2:p.Ala870_Pro871delinsProLeu
ENST00000470026.6:c.2608_2612delinsCCTCT	ENSP00000419274.2:p.Ala870_Pro871delinsProLeu
ENST00000473961.6:c.2482_2486delinsCCTCT	ENSP00000420201.2:p.Ala828_Pro829delinsProLeu
ENST00000476777.6:c.2605_2609delinsCCTCT	ENSP00000417554.2:p.Ala869_Pro870delinsProLeu
ENST00000477152.6:c.2530_2534delinsCCTCT	ENSP00000419988.2:p.Ala844_Pro845delinsProLeu
ENST00000478531.6:c.784+1821_784+1825delinsCCTCT	ENSP00000420412.2:n.784+1821_784+1825delinsCCTCT
ENST00000489037.2:c.2530_2534delinsCCTCT	ENSP00000420781.2:p.Ala844_Pro845delinsProLeu
ENST00000493919.6:c.646+1821_646+1825delinsCCTCT	ENSP00000418819.2:n.646+1821_646+1825delinsCCTCT
ENST00000494123.6:c.2608_2612delinsCCTCT	ENSP00000419103.2:p.Ala870_Pro871delinsProLeu
ENST00000497488.2:c.1720_1724delinsCCTCT	ENSP00000418986.2:p.Ala574_Pro575delinsProLeu
ENST00000618469.2:c.2608_2612delinsCCTCT	ENSP00000478114.2:p.Ala870_Pro871delinsProLeu
ENST00000634433.2:c.2485_2489delinsCCTCT	ENSP00000489431.2:p.Ala829_Pro830delinsProLeu
ENST00000644379.2:c.2608_2612delinsCCTCT	ENSP00000496570.2:p.Ala870_Pro871delinsProLeu
ENST00000644555.2:c.646+1821_646+1825delinsCCTCT	ENSP00000494614.2:n.646+1821_646+1825delinsCCTCT
ENST00000652672.2:c.2467_2471delinsCCTCT	ENSP00000498906.2:p.Ala823_Pro824delinsProLeu
ENST00000484087.6:c.664+1821_664+1825delinsCCTCT	ENSP00000419481.2:n.664+1821_664+1825delinsCCTCT
ENST00000700182.1:c.706+1821_706+1825delinsCCTCT	ENSP00000514849.1:n.706+1821_706+1825delinsCCTCT
ENST00000357654.9:c.2608_2612delinsCCTCT MANE Select	ENSP00000350283.3:p.Ala870_Pro871delinsProLeu
ENST00000471181.7:c.2608_2612delinsCCTCT	ENSP00000418960.2:p.Ala870_Pro871delinsProLeu
ENST00000352993.7:c.671-1891_671-1887delinsCCTCT	ENSP00000312236.5:n.671-1891_671-1887delinsCCTCT
ENST00000354071.7:c.2608_2612delinsCCTCT	ENSP00000326002.7:p.Ala870_Pro871delinsProLeu
ENST00000357654.7:c.2608_2612delinsCCTCT	ENSP00000350283.3:p.Ala870_Pro871delinsProLeu
ENST00000461221.5:c.*2391_*2395delinsCCTCT	ENSP00000418548.1:n.*2391_*2395delinsCCTCT
ENST00000468300.5:c.787+1821_787+1825delinsCCTCT	ENSP00000417148.1:n.787+1821_787+1825delinsCCTCT
ENST00000471181.6:c.2608_2612delinsCCTCT	ENSP00000418960.2:p.Ala870_Pro871delinsProLeu
ENST00000478531.5:c.784+1821_784+1825delinsCCTCT	ENSP00000420412.1:n.784+1821_784+1825delinsCCTCT
ENST00000484087.5:c.409+1821_409+1825delinsCCTCT	ENSP00000419481.1:n.409+1821_409+1825delinsCCTCT
ENST00000487825.5:c.412+1821_412+1825delinsCCTCT	ENSP00000418212.1:n.412+1821_412+1825delinsCCTCT
ENST00000491747.6:c.787+1821_787+1825delinsCCTCT	ENSP00000420705.2:n.787+1821_787+1825delinsCCTCT
ENST00000493795.5:c.2467_2471delinsCCTCT	ENSP00000418775.1:p.Ala823_Pro824delinsProLeu
ENST00000493919.5:c.646+1821_646+1825delinsCCTCT	ENSP00000418819.1:n.646+1821_646+1825delinsCCTCT
ENST00000586385.5:c.5-28972_5-28968delinsCCTCT	ENSP00000465818.1:n.5-28972_5-28968delinsCCTCT
ENST00000591534.5:c.-43-18402_-43-18398delinsCCTCT	ENSP00000467329.1:n.-43-18402_-43-18398delinsCCTCT
ENST00000591849.5:c.-99+32348_-99+32352delinsCCTCT	ENSP00000465347.1:n.-99+32348_-99+32352delinsCCTCT
NM_007294.3:c.2608_2612delinsCCTCT , LRG_292t1:c.2608_2612delinsCCTCT	NP_009225.1:p.Ala870_Pro871delinsProLeu
NM_007297.3:c.2467_2471delinsCCTCT	NP_009228.2:p.Ala823_Pro824delinsProLeu
NM_007298.3:c.787+1821_787+1825delinsCCTCT	NP_009229.2:n.787+1821_787+1825delinsCCTCT
NM_007299.3:c.787+1821_787+1825delinsCCTCT	NP_009230.2:n.787+1821_787+1825delinsCCTCT
NM_007300.3:c.2608_2612delinsCCTCT	NP_009231.2:p.Ala870_Pro871delinsProLeu
NR_027676.1:n.2744_2748delinsCCTCT
NM_007294.4:c.2608_2612delinsCCTCT MANE Select	NP_009225.1:p.Ala870_Pro871delinsProLeu
NM_007297.4:c.2467_2471delinsCCTCT	NP_009228.2:p.Ala823_Pro824delinsProLeu
NM_007299.4:c.787+1821_787+1825delinsCCTCT	NP_009230.2:n.787+1821_787+1825delinsCCTCT
NM_007300.4:c.2608_2612delinsCCTCT	NP_009231.2:p.Ala870_Pro871delinsProLeu
NR_027676.2:n.2785_2789delinsCCTCT