Canonical Allele Identifier: CA2260784268

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093731_43093735delinsGATAT , CM000679.2:g.43093731_43093735delinsGATAT	GRCh38
NC_000017.10:g.41245748_41245752delinsGATAT , CM000679.1:g.41245748_41245752delinsGATAT	GRCh37
NC_000017.9:g.38499274_38499278delinsGATAT	NCBI36
NG_005905.2:g.124249_124253delinsATATC , LRG_292:g.124249_124253delinsATATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1860_1864delinsATATC
ENST00000461574.2:c.1796_1800delinsATATC	ENSP00000417241.2:p.Asn599=
ENST00000470026.6:c.1796_1800delinsATATC	ENSP00000419274.2:p.Asn599=
ENST00000473961.6:c.1670_1674delinsATATC	ENSP00000420201.2:p.Asn557=
ENST00000476777.6:c.1793_1797delinsATATC	ENSP00000417554.2:p.Asn598=
ENST00000477152.6:c.1718_1722delinsATATC	ENSP00000419988.2:p.Asn573=
ENST00000478531.6:c.784+1009_784+1013delinsATATC	ENSP00000420412.2:n.784+1009_784+1013deli...
ENST00000489037.2:c.1718_1722delinsATATC	ENSP00000420781.2:p.Asn573=
ENST00000493919.6:c.646+1009_646+1013delinsATATC	ENSP00000418819.2:n.646+1009_646+1013deli...
ENST00000494123.6:c.1796_1800delinsATATC	ENSP00000419103.2:p.Asn599=
ENST00000497488.2:c.908_912delinsATATC	ENSP00000418986.2:p.Asn303=
ENST00000618469.2:c.1796_1800delinsATATC	ENSP00000478114.2:p.Asn599=
ENST00000634433.2:c.1673_1677delinsATATC	ENSP00000489431.2:p.Asn558=
ENST00000644379.2:c.1796_1800delinsATATC	ENSP00000496570.2:p.Asn599=
ENST00000644555.2:c.646+1009_646+1013delinsATATC	ENSP00000494614.2:n.646+1009_646+1013deli...
ENST00000652672.2:c.1655_1659delinsATATC	ENSP00000498906.2:p.Asn552=
ENST00000484087.6:c.664+1009_664+1013delinsATATC	ENSP00000419481.2:n.664+1009_664+1013deli...
ENST00000700182.1:c.706+1009_706+1013delinsATATC	ENSP00000514849.1:n.706+1009_706+1013deli...
ENST00000357654.9:c.1796_1800delinsATATC MANE Select	ENSP00000350283.3:p.Asn599=
ENST00000471181.7:c.1796_1800delinsATATC	ENSP00000418960.2:p.Asn599=
ENST00000652672.1:c.1655_1659delinsATATC	ENSP00000498906.1:p.Asn552=
ENST00000352993.7:c.670+2111_670+2115delinsATATC	ENSP00000312236.5:n.670+2111_670+2115deli...
ENST00000354071.7:c.1796_1800delinsATATC	ENSP00000326002.7:p.Asn599=
ENST00000357654.7:c.1796_1800delinsATATC	ENSP00000350283.3:p.Asn599=
ENST00000412061.3:c.1147_1151delinsATATC
ENST00000461221.5:c.*1579_*1583delinsATATC	ENSP00000418548.1:n.*1579_*1583delinsATAT...
ENST00000468300.5:c.787+1009_787+1013delinsATATC	ENSP00000417148.1:n.787+1009_787+1013deli...
ENST00000470026.5:c.1796_1800delinsATATC	ENSP00000419274.1:p.Asn599=
ENST00000471181.6:c.1796_1800delinsATATC	ENSP00000418960.2:p.Asn599=
ENST00000477152.5:c.1718_1722delinsATATC	ENSP00000419988.1:p.Asn573=
ENST00000478531.5:c.784+1009_784+1013delinsATATC	ENSP00000420412.1:n.784+1009_784+1013deli...
ENST00000484087.5:c.409+1009_409+1013delinsATATC	ENSP00000419481.1:n.409+1009_409+1013deli...
ENST00000487825.5:c.412+1009_412+1013delinsATATC	ENSP00000418212.1:n.412+1009_412+1013deli...
ENST00000491747.6:c.787+1009_787+1013delinsATATC	ENSP00000420705.2:n.787+1009_787+1013deli...
ENST00000493795.5:c.1655_1659delinsATATC	ENSP00000418775.1:p.Asn552=
ENST00000493919.5:c.646+1009_646+1013delinsATATC	ENSP00000418819.1:n.646+1009_646+1013deli...
ENST00000586385.5:c.5-29784_5-29780delinsATATC	ENSP00000465818.1:n.5-29784_5-29780delins...
ENST00000591534.5:c.-43-19214_-43-19210delinsATATC	ENSP00000467329.1:n.-43-19214_-43-19210de...
ENST00000591849.5:c.-99+31536_-99+31540delinsATATC	ENSP00000465347.1:n.-99+31536_-99+31540de...
ENST00000634433.1:c.1673_1677delinsATATC	ENSP00000489431.1:p.Asn558=
NM_007294.3:c.1796_1800delinsATATC , LRG_292t1:c.1796_1800delinsATATC	NP_009225.1:p.Asn599=
NM_007297.3:c.1655_1659delinsATATC	NP_009228.2:p.Asn552=
NM_007298.3:c.787+1009_787+1013delinsATATC	NP_009229.2:n.787+1009_787+1013delinsATAT...
NM_007299.3:c.787+1009_787+1013delinsATATC	NP_009230.2:n.787+1009_787+1013delinsATAT...
NM_007300.3:c.1796_1800delinsATATC	NP_009231.2:p.Asn599=
NR_027676.1:n.1932_1936delinsATATC
NM_007294.4:c.1796_1800delinsATATC MANE Select	NP_009225.1:p.Asn599=
NM_007297.4:c.1655_1659delinsATATC	NP_009228.2:p.Asn552=
NM_007299.4:c.787+1009_787+1013delinsATATC	NP_009230.2:n.787+1009_787+1013delinsATAT...
NM_007300.4:c.1796_1800delinsATATC	NP_009231.2:p.Asn599=
NR_027676.2:n.1973_1977delinsATATC