Canonical Allele Identifier: CA2260784794

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094295_43094299delinsTACAT , CM000679.2:g.43094295_43094299delinsTACAT	GRCh38
NC_000017.10:g.41246312_41246316delinsTACAT , CM000679.1:g.41246312_41246316delinsTACAT	GRCh37
NC_000017.9:g.38499838_38499842delinsTACAT	NCBI36
NG_005905.2:g.123685_123689delinsATGTA , LRG_292:g.123685_123689delinsATGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1296_1300delinsATGTA
ENST00000461574.2:c.1232_1236delinsATGTA	ENSP00000417241.2:p.Asp411=
ENST00000470026.6:c.1232_1236delinsATGTA	ENSP00000419274.2:p.Asp411=
ENST00000473961.6:c.1106_1110delinsATGTA	ENSP00000420201.2:p.Asp369=
ENST00000476777.6:c.1229_1233delinsATGTA	ENSP00000417554.2:p.Asp410=
ENST00000477152.6:c.1154_1158delinsATGTA	ENSP00000419988.2:p.Asp385=
ENST00000478531.6:c.784+445_784+449delinsATGTA	ENSP00000420412.2:n.784+445_784+449delinsATGTA
ENST00000489037.2:c.1154_1158delinsATGTA	ENSP00000420781.2:p.Asp385=
ENST00000493919.6:c.646+445_646+449delinsATGTA	ENSP00000418819.2:n.646+445_646+449delinsATGTA
ENST00000494123.6:c.1232_1236delinsATGTA	ENSP00000419103.2:p.Asp411=
ENST00000497488.2:c.344_348delinsATGTA	ENSP00000418986.2:p.Asp115=
ENST00000618469.2:c.1232_1236delinsATGTA	ENSP00000478114.2:p.Asp411=
ENST00000634433.2:c.1109_1113delinsATGTA	ENSP00000489431.2:p.Asp370=
ENST00000644379.2:c.1232_1236delinsATGTA	ENSP00000496570.2:p.Asp411=
ENST00000644555.2:c.646+445_646+449delinsATGTA	ENSP00000494614.2:n.646+445_646+449delinsATGTA
ENST00000652672.2:c.1091_1095delinsATGTA	ENSP00000498906.2:p.Asp364=
ENST00000484087.6:c.664+445_664+449delinsATGTA	ENSP00000419481.2:n.664+445_664+449delinsATGTA
ENST00000700182.1:c.706+445_706+449delinsATGTA	ENSP00000514849.1:n.706+445_706+449delinsATGTA
ENST00000700183.1:c.*1240_*1244delinsATGTA	ENSP00000514850.1:n.*1240_*1244delinsATGTA
ENST00000357654.9:c.1232_1236delinsATGTA MANE Select	ENSP00000350283.3:p.Asp411=
ENST00000471181.7:c.1232_1236delinsATGTA	ENSP00000418960.2:p.Asp411=
ENST00000652672.1:c.1091_1095delinsATGTA	ENSP00000498906.1:p.Asp364=
ENST00000352993.7:c.670+1547_670+1551delinsATGTA	ENSP00000312236.5:n.670+1547_670+1551delinsATGTA
ENST00000354071.7:c.1232_1236delinsATGTA	ENSP00000326002.7:p.Asp411=
ENST00000357654.7:c.1232_1236delinsATGTA	ENSP00000350283.3:p.Asp411=
ENST00000412061.3:c.583_587delinsATGTA
ENST00000461221.5:c.*1015_*1019delinsATGTA	ENSP00000418548.1:n.*1015_*1019delinsATGTA
ENST00000468300.5:c.787+445_787+449delinsATGTA	ENSP00000417148.1:n.787+445_787+449delinsATGTA
ENST00000470026.5:c.1232_1236delinsATGTA	ENSP00000419274.1:p.Asp411=
ENST00000471181.6:c.1232_1236delinsATGTA	ENSP00000418960.2:p.Asp411=
ENST00000473961.5:c.829_833delinsATGTA
ENST00000477152.5:c.1154_1158delinsATGTA	ENSP00000419988.1:p.Asp385=
ENST00000478531.5:c.784+445_784+449delinsATGTA	ENSP00000420412.1:n.784+445_784+449delinsATGTA
ENST00000484087.5:c.409+445_409+449delinsATGTA	ENSP00000419481.1:n.409+445_409+449delinsATGTA
ENST00000487825.5:c.412+445_412+449delinsATGTA	ENSP00000418212.1:n.412+445_412+449delinsATGTA
ENST00000491747.6:c.787+445_787+449delinsATGTA	ENSP00000420705.2:n.787+445_787+449delinsATGTA
ENST00000492859.5:c.*1168_*1172delinsATGTA	ENSP00000420253.1:n.*1168_*1172delinsATGTA
ENST00000493795.5:c.1091_1095delinsATGTA	ENSP00000418775.1:p.Asp364=
ENST00000493919.5:c.646+445_646+449delinsATGTA	ENSP00000418819.1:n.646+445_646+449delinsATGTA
ENST00000494123.5:c.1232_1236delinsATGTA	ENSP00000419103.1:p.Asp411=
ENST00000497488.1:c.344_348delinsATGTA	ENSP00000418986.1:p.Asp115=
ENST00000586385.5:c.5-30348_5-30344delinsATGTA	ENSP00000465818.1:n.5-30348_5-30344delinsATGTA
ENST00000591534.5:c.-43-19778_-43-19774delinsATGTA	ENSP00000467329.1:n.-43-19778_-43-19774delinsATGTA
ENST00000591849.5:c.-99+30972_-99+30976delinsATGTA	ENSP00000465347.1:n.-99+30972_-99+30976delinsATGTA
ENST00000634433.1:c.1109_1113delinsATGTA	ENSP00000489431.1:p.Asp370=
NM_007294.3:c.1232_1236delinsATGTA , LRG_292t1:c.1232_1236delinsATGTA	NP_009225.1:p.Asp411=
NM_007297.3:c.1091_1095delinsATGTA	NP_009228.2:p.Asp364=
NM_007298.3:c.787+445_787+449delinsATGTA	NP_009229.2:n.787+445_787+449delinsATGTA
NM_007299.3:c.787+445_787+449delinsATGTA	NP_009230.2:n.787+445_787+449delinsATGTA
NM_007300.3:c.1232_1236delinsATGTA	NP_009231.2:p.Asp411=
NR_027676.1:n.1368_1372delinsATGTA
NM_007294.4:c.1232_1236delinsATGTA MANE Select	NP_009225.1:p.Asp411=
NM_007297.4:c.1091_1095delinsATGTA	NP_009228.2:p.Asp364=
NM_007299.4:c.787+445_787+449delinsATGTA	NP_009230.2:n.787+445_787+449delinsATGTA
NM_007300.4:c.1232_1236delinsATGTA	NP_009231.2:p.Asp411=
NR_027676.2:n.1409_1413delinsATGTA