Canonical Allele Identifier: CA2260784632

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094127_43094128delinsCT , CM000679.2:g.43094127_43094128delinsCT	GRCh38
NC_000017.10:g.41246144_41246145delinsCT , CM000679.1:g.41246144_41246145delinsCT	GRCh37
NC_000017.9:g.38499670_38499671delinsCT	NCBI36
NG_005905.2:g.123856_123857delinsAG , LRG_292:g.123856_123857delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1467_1468delinsAG
ENST00000461574.2:c.1403_1404delinsAG	ENSP00000417241.2:p.Lys468=
ENST00000470026.6:c.1403_1404delinsAG	ENSP00000419274.2:p.Lys468=
ENST00000473961.6:c.1277_1278delinsAG	ENSP00000420201.2:p.Lys426=
ENST00000476777.6:c.1400_1401delinsAG	ENSP00000417554.2:p.Lys467=
ENST00000477152.6:c.1325_1326delinsAG	ENSP00000419988.2:p.Lys442=
ENST00000478531.6:c.784+616_784+617delinsAG	ENSP00000420412.2:n.784+616_784+617delinsAG
ENST00000489037.2:c.1325_1326delinsAG	ENSP00000420781.2:p.Lys442=
ENST00000493919.6:c.646+616_646+617delinsAG	ENSP00000418819.2:n.646+616_646+617delinsAG
ENST00000494123.6:c.1403_1404delinsAG	ENSP00000419103.2:p.Lys468=
ENST00000497488.2:c.515_516delinsAG	ENSP00000418986.2:p.Lys172=
ENST00000618469.2:c.1403_1404delinsAG	ENSP00000478114.2:p.Lys468=
ENST00000634433.2:c.1280_1281delinsAG	ENSP00000489431.2:p.Lys427=
ENST00000644379.2:c.1403_1404delinsAG	ENSP00000496570.2:p.Lys468=
ENST00000644555.2:c.646+616_646+617delinsAG	ENSP00000494614.2:n.646+616_646+617delinsAG
ENST00000652672.2:c.1262_1263delinsAG	ENSP00000498906.2:p.Lys421=
ENST00000484087.6:c.664+616_664+617delinsAG	ENSP00000419481.2:n.664+616_664+617delinsAG
ENST00000700182.1:c.706+616_706+617delinsAG	ENSP00000514849.1:n.706+616_706+617delinsAG
ENST00000700183.1:c.*1411_*1412delinsAG	ENSP00000514850.1:n.*1411_*1412delinsAG
ENST00000357654.9:c.1403_1404delinsAG MANE Select	ENSP00000350283.3:p.Lys468=
ENST00000471181.7:c.1403_1404delinsAG	ENSP00000418960.2:p.Lys468=
ENST00000652672.1:c.1262_1263delinsAG	ENSP00000498906.1:p.Lys421=
ENST00000352993.7:c.670+1718_670+1719delinsAG	ENSP00000312236.5:n.670+1718_670+1719delinsAG
ENST00000354071.7:c.1403_1404delinsAG	ENSP00000326002.7:p.Lys468=
ENST00000357654.7:c.1403_1404delinsAG	ENSP00000350283.3:p.Lys468=
ENST00000412061.3:c.754_755delinsAG
ENST00000461221.5:c.*1186_*1187delinsAG	ENSP00000418548.1:n.*1186_*1187delinsAG
ENST00000468300.5:c.787+616_787+617delinsAG	ENSP00000417148.1:n.787+616_787+617delinsAG
ENST00000470026.5:c.1403_1404delinsAG	ENSP00000419274.1:p.Lys468=
ENST00000471181.6:c.1403_1404delinsAG	ENSP00000418960.2:p.Lys468=
ENST00000477152.5:c.1325_1326delinsAG	ENSP00000419988.1:p.Lys442=
ENST00000478531.5:c.784+616_784+617delinsAG	ENSP00000420412.1:n.784+616_784+617delinsAG
ENST00000484087.5:c.409+616_409+617delinsAG	ENSP00000419481.1:n.409+616_409+617delinsAG
ENST00000487825.5:c.412+616_412+617delinsAG	ENSP00000418212.1:n.412+616_412+617delinsAG
ENST00000491747.6:c.787+616_787+617delinsAG	ENSP00000420705.2:n.787+616_787+617delinsAG
ENST00000492859.5:c.*1339_*1340delinsAG	ENSP00000420253.1:n.*1339_*1340delinsAG
ENST00000493795.5:c.1262_1263delinsAG	ENSP00000418775.1:p.Lys421=
ENST00000493919.5:c.646+616_646+617delinsAG	ENSP00000418819.1:n.646+616_646+617delinsAG
ENST00000494123.5:c.1403_1404delinsAG	ENSP00000419103.1:p.Lys468=
ENST00000497488.1:c.515_516delinsAG	ENSP00000418986.1:p.Lys172=
ENST00000586385.5:c.5-30177_5-30176delinsAG	ENSP00000465818.1:n.5-30177_5-30176delinsAG
ENST00000591534.5:c.-43-19607_-43-19606delinsAG	ENSP00000467329.1:n.-43-19607_-43-19606delinsAG
ENST00000591849.5:c.-99+31143_-99+31144delinsAG	ENSP00000465347.1:n.-99+31143_-99+31144delinsAG
ENST00000634433.1:c.1280_1281delinsAG	ENSP00000489431.1:p.Lys427=
NM_007294.3:c.1403_1404delinsAG , LRG_292t1:c.1403_1404delinsAG	NP_009225.1:p.Lys468=
NM_007297.3:c.1262_1263delinsAG	NP_009228.2:p.Lys421=
NM_007298.3:c.787+616_787+617delinsAG	NP_009229.2:n.787+616_787+617delinsAG
NM_007299.3:c.787+616_787+617delinsAG	NP_009230.2:n.787+616_787+617delinsAG
NM_007300.3:c.1403_1404delinsAG	NP_009231.2:p.Lys468=
NR_027676.1:n.1539_1540delinsAG
NM_007294.4:c.1403_1404delinsAG MANE Select	NP_009225.1:p.Lys468=
NM_007297.4:c.1262_1263delinsAG	NP_009228.2:p.Lys421=
NM_007299.4:c.787+616_787+617delinsAG	NP_009230.2:n.787+616_787+617delinsAG
NM_007300.4:c.1403_1404delinsAG	NP_009231.2:p.Lys468=
NR_027676.2:n.1580_1581delinsAG