Canonical Allele Identifier: CA2260783784

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093279_43093289delinsATGAGATCTTT , CM000679.2:g.43093279_43093289delinsATGAGATCTTT	GRCh38
NC_000017.10:g.41245296_41245306delinsATGAGATCTTT , CM000679.1:g.41245296_41245306delinsATGAGATCTTT	GRCh37
NC_000017.9:g.38498822_38498832delinsATGAGATCTTT	NCBI36
NG_005905.2:g.124695_124705delinsAAAGATCTCAT , LRG_292:g.124695_124705delinsAAAGATCTCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2306_2316delinsAAAGATCTCAT
ENST00000461574.2:c.2242_2252delinsAAAGATCTCAT	ENSP00000417241.2:p.Lys748=
ENST00000470026.6:c.2242_2252delinsAAAGATCTCAT	ENSP00000419274.2:p.Lys748=
ENST00000473961.6:c.2116_2126delinsAAAGATCTCAT	ENSP00000420201.2:p.Lys706=
ENST00000476777.6:c.2239_2249delinsAAAGATCTCAT	ENSP00000417554.2:p.Lys747=
ENST00000477152.6:c.2164_2174delinsAAAGATCTCAT	ENSP00000419988.2:p.Lys722=
ENST00000478531.6:c.784+1455_784+1465delinsAAAGATCTCAT	ENSP00000420412.2:n.784+1455_784+1465delinsAAAGATCTCAT
ENST00000489037.2:c.2164_2174delinsAAAGATCTCAT	ENSP00000420781.2:p.Lys722=
ENST00000493919.6:c.646+1455_646+1465delinsAAAGATCTCAT	ENSP00000418819.2:n.646+1455_646+1465delinsAAAGATCTCAT
ENST00000494123.6:c.2242_2252delinsAAAGATCTCAT	ENSP00000419103.2:p.Lys748=
ENST00000497488.2:c.1354_1364delinsAAAGATCTCAT	ENSP00000418986.2:p.Lys452=
ENST00000618469.2:c.2242_2252delinsAAAGATCTCAT	ENSP00000478114.2:p.Lys748=
ENST00000634433.2:c.2119_2129delinsAAAGATCTCAT	ENSP00000489431.2:p.Lys707=
ENST00000644379.2:c.2242_2252delinsAAAGATCTCAT	ENSP00000496570.2:p.Lys748=
ENST00000644555.2:c.646+1455_646+1465delinsAAAGATCTCAT	ENSP00000494614.2:n.646+1455_646+1465delinsAAAGATCTCAT
ENST00000652672.2:c.2101_2111delinsAAAGATCTCAT	ENSP00000498906.2:p.Lys701=
ENST00000484087.6:c.664+1455_664+1465delinsAAAGATCTCAT	ENSP00000419481.2:n.664+1455_664+1465delinsAAAGATCTCAT
ENST00000700182.1:c.706+1455_706+1465delinsAAAGATCTCAT	ENSP00000514849.1:n.706+1455_706+1465delinsAAAGATCTCAT
ENST00000357654.9:c.2242_2252delinsAAAGATCTCAT MANE Select	ENSP00000350283.3:p.Lys748=
ENST00000471181.7:c.2242_2252delinsAAAGATCTCAT	ENSP00000418960.2:p.Lys748=
ENST00000352993.7:c.671-2257_671-2247delinsAAAGATCTCAT	ENSP00000312236.5:n.671-2257_671-2247delinsAAAGATCTCAT
ENST00000354071.7:c.2242_2252delinsAAAGATCTCAT	ENSP00000326002.7:p.Lys748=
ENST00000357654.7:c.2242_2252delinsAAAGATCTCAT	ENSP00000350283.3:p.Lys748=
ENST00000461221.5:c.*2025_*2035delinsAAAGATCTCAT	ENSP00000418548.1:n.*2025_*2035delinsAAAGATCTCAT
ENST00000468300.5:c.787+1455_787+1465delinsAAAGATCTCAT	ENSP00000417148.1:n.787+1455_787+1465delinsAAAGATCTCAT
ENST00000471181.6:c.2242_2252delinsAAAGATCTCAT	ENSP00000418960.2:p.Lys748=
ENST00000478531.5:c.784+1455_784+1465delinsAAAGATCTCAT	ENSP00000420412.1:n.784+1455_784+1465delinsAAAGATCTCAT
ENST00000484087.5:c.409+1455_409+1465delinsAAAGATCTCAT	ENSP00000419481.1:n.409+1455_409+1465delinsAAAGATCTCAT
ENST00000487825.5:c.412+1455_412+1465delinsAAAGATCTCAT	ENSP00000418212.1:n.412+1455_412+1465delinsAAAGATCTCAT
ENST00000491747.6:c.787+1455_787+1465delinsAAAGATCTCAT	ENSP00000420705.2:n.787+1455_787+1465delinsAAAGATCTCAT
ENST00000493795.5:c.2101_2111delinsAAAGATCTCAT	ENSP00000418775.1:p.Lys701=
ENST00000493919.5:c.646+1455_646+1465delinsAAAGATCTCAT	ENSP00000418819.1:n.646+1455_646+1465delinsAAAGATCTCAT
ENST00000586385.5:c.5-29338_5-29328delinsAAAGATCTCAT	ENSP00000465818.1:n.5-29338_5-29328delinsAAAGATCTCAT
ENST00000591534.5:c.-43-18768_-43-18758delinsAAAGATCTCAT	ENSP00000467329.1:n.-43-18768_-43-18758delinsAAAGATCTCAT
ENST00000591849.5:c.-99+31982_-99+31992delinsAAAGATCTCAT	ENSP00000465347.1:n.-99+31982_-99+31992delinsAAAGATCTCAT
ENST00000634433.1:c.2119_2129delinsAAAGATCTCAT	ENSP00000489431.1:p.Lys707=
NM_007294.3:c.2242_2252delinsAAAGATCTCAT , LRG_292t1:c.2242_2252delinsAAAGATCTCAT	NP_009225.1:p.Lys748=
NM_007297.3:c.2101_2111delinsAAAGATCTCAT	NP_009228.2:p.Lys701=
NM_007298.3:c.787+1455_787+1465delinsAAAGATCTCAT	NP_009229.2:n.787+1455_787+1465delinsAAAGATCTCAT
NM_007299.3:c.787+1455_787+1465delinsAAAGATCTCAT	NP_009230.2:n.787+1455_787+1465delinsAAAGATCTCAT
NM_007300.3:c.2242_2252delinsAAAGATCTCAT	NP_009231.2:p.Lys748=
NR_027676.1:n.2378_2388delinsAAAGATCTCAT
NM_007294.4:c.2242_2252delinsAAAGATCTCAT MANE Select	NP_009225.1:p.Lys748=
NM_007297.4:c.2101_2111delinsAAAGATCTCAT	NP_009228.2:p.Lys701=
NM_007299.4:c.787+1455_787+1465delinsAAAGATCTCAT	NP_009230.2:n.787+1455_787+1465delinsAAAGATCTCAT
NM_007300.4:c.2242_2252delinsAAAGATCTCAT	NP_009231.2:p.Lys748=
NR_027676.2:n.2419_2429delinsAAAGATCTCAT