Canonical Allele Identifier: CA2260784811

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094313_43094314delinsAT , CM000679.2:g.43094313_43094314delinsAT	GRCh38
NC_000017.10:g.41246330_41246331delinsAT , CM000679.1:g.41246330_41246331delinsAT	GRCh37
NC_000017.9:g.38499856_38499857delinsAT	NCBI36
NG_005905.2:g.123670_123671delinsAT , LRG_292:g.123670_123671delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1281_1282delinsAT
ENST00000461574.2:c.1217_1218delinsAT	ENSP00000417241.2:p.Asn406=
ENST00000470026.6:c.1217_1218delinsAT	ENSP00000419274.2:p.Asn406=
ENST00000473961.6:c.1091_1092delinsAT	ENSP00000420201.2:p.Asn364=
ENST00000476777.6:c.1214_1215delinsAT	ENSP00000417554.2:p.Asn405=
ENST00000477152.6:c.1139_1140delinsAT	ENSP00000419988.2:p.Asn380=
ENST00000478531.6:c.784+430_784+431delinsAT	ENSP00000420412.2:n.784+430_784+431delinsAT
ENST00000489037.2:c.1139_1140delinsAT	ENSP00000420781.2:p.Asn380=
ENST00000493919.6:c.646+430_646+431delinsAT	ENSP00000418819.2:n.646+430_646+431delinsAT
ENST00000494123.6:c.1217_1218delinsAT	ENSP00000419103.2:p.Asn406=
ENST00000497488.2:c.329_330delinsAT	ENSP00000418986.2:p.Asn110=
ENST00000618469.2:c.1217_1218delinsAT	ENSP00000478114.2:p.Asn406=
ENST00000634433.2:c.1094_1095delinsAT	ENSP00000489431.2:p.Asn365=
ENST00000644379.2:c.1217_1218delinsAT	ENSP00000496570.2:p.Asn406=
ENST00000644555.2:c.646+430_646+431delinsAT	ENSP00000494614.2:n.646+430_646+431delinsAT
ENST00000652672.2:c.1076_1077delinsAT	ENSP00000498906.2:p.Asn359=
ENST00000484087.6:c.664+430_664+431delinsAT	ENSP00000419481.2:n.664+430_664+431delinsAT
ENST00000700182.1:c.706+430_706+431delinsAT	ENSP00000514849.1:n.706+430_706+431delinsAT
ENST00000700183.1:c.*1225_*1226delinsAT	ENSP00000514850.1:n.*1225_*1226delinsAT
ENST00000357654.9:c.1217_1218delinsAT MANE Select	ENSP00000350283.3:p.Asn406=
ENST00000471181.7:c.1217_1218delinsAT	ENSP00000418960.2:p.Asn406=
ENST00000652672.1:c.1076_1077delinsAT	ENSP00000498906.1:p.Asn359=
ENST00000352993.7:c.670+1532_670+1533delinsAT	ENSP00000312236.5:n.670+1532_670+1533delinsAT
ENST00000354071.7:c.1217_1218delinsAT	ENSP00000326002.7:p.Asn406=
ENST00000357654.7:c.1217_1218delinsAT	ENSP00000350283.3:p.Asn406=
ENST00000412061.3:c.568_569delinsAT
ENST00000461221.5:c.*1000_*1001delinsAT	ENSP00000418548.1:n.*1000_*1001delinsAT
ENST00000468300.5:c.787+430_787+431delinsAT	ENSP00000417148.1:n.787+430_787+431delinsAT
ENST00000470026.5:c.1217_1218delinsAT	ENSP00000419274.1:p.Asn406=
ENST00000471181.6:c.1217_1218delinsAT	ENSP00000418960.2:p.Asn406=
ENST00000473961.5:c.814_815delinsAT
ENST00000477152.5:c.1139_1140delinsAT	ENSP00000419988.1:p.Asn380=
ENST00000478531.5:c.784+430_784+431delinsAT	ENSP00000420412.1:n.784+430_784+431delinsAT
ENST00000484087.5:c.409+430_409+431delinsAT	ENSP00000419481.1:n.409+430_409+431delinsAT
ENST00000487825.5:c.412+430_412+431delinsAT	ENSP00000418212.1:n.412+430_412+431delinsAT
ENST00000491747.6:c.787+430_787+431delinsAT	ENSP00000420705.2:n.787+430_787+431delinsAT
ENST00000492859.5:c.*1153_*1154delinsAT	ENSP00000420253.1:n.*1153_*1154delinsAT
ENST00000493795.5:c.1076_1077delinsAT	ENSP00000418775.1:p.Asn359=
ENST00000493919.5:c.646+430_646+431delinsAT	ENSP00000418819.1:n.646+430_646+431delinsAT
ENST00000494123.5:c.1217_1218delinsAT	ENSP00000419103.1:p.Asn406=
ENST00000497488.1:c.329_330delinsAT	ENSP00000418986.1:p.Asn110=
ENST00000586385.5:c.5-30363_5-30362delinsAT	ENSP00000465818.1:n.5-30363_5-30362delinsAT
ENST00000591534.5:c.-43-19793_-43-19792delinsAT	ENSP00000467329.1:n.-43-19793_-43-19792delinsAT
ENST00000591849.5:c.-99+30957_-99+30958delinsAT	ENSP00000465347.1:n.-99+30957_-99+30958delinsAT
ENST00000634433.1:c.1094_1095delinsAT	ENSP00000489431.1:p.Asn365=
NM_007294.3:c.1217_1218delinsAT , LRG_292t1:c.1217_1218delinsAT	NP_009225.1:p.Asn406=
NM_007297.3:c.1076_1077delinsAT	NP_009228.2:p.Asn359=
NM_007298.3:c.787+430_787+431delinsAT	NP_009229.2:n.787+430_787+431delinsAT
NM_007299.3:c.787+430_787+431delinsAT	NP_009230.2:n.787+430_787+431delinsAT
NM_007300.3:c.1217_1218delinsAT	NP_009231.2:p.Asn406=
NR_027676.1:n.1353_1354delinsAT
NM_007294.4:c.1217_1218delinsAT MANE Select	NP_009225.1:p.Asn406=
NM_007297.4:c.1076_1077delinsAT	NP_009228.2:p.Asn359=
NM_007299.4:c.787+430_787+431delinsAT	NP_009230.2:n.787+430_787+431delinsAT
NM_007300.4:c.1217_1218delinsAT	NP_009231.2:p.Asn406=
NR_027676.2:n.1394_1395delinsAT