Canonical Allele Identifier: CA001085

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54315
• ClinVar RCV Id: RCV002514232
• dbSNP Id: rs80359881
• gnomAD v4: 17-43093876-CCACTATTAGTAATATTCAT-C
• MyVariant Identifiers: chr17:g.41245894_41245912del (hg19) ; chr17:g.43093877_43093895del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093881_43093899del , CM000679.2:g.43093881_43093899del	GRCh38
NC_000017.10:g.41245898_41245916del , CM000679.1:g.41245898_41245916del	GRCh37
NC_000017.9:g.38499424_38499442del	NCBI36
NG_005905.2:g.124089_124107del , LRG_292:g.124089_124107del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1700_1718del
ENST00000461574.2:c.1636_1654del	ENSP00000417241.2:p.Met546ValfsTer20
ENST00000470026.6:c.1636_1654del	ENSP00000419274.2:p.Met546ValfsTer20
ENST00000473961.6:c.1510_1528del	ENSP00000420201.2:p.Met504ValfsTer20
ENST00000476777.6:c.1633_1651del	ENSP00000417554.2:p.Met545ValfsTer20
ENST00000477152.6:c.1558_1576del	ENSP00000419988.2:p.Met520ValfsTer20
ENST00000478531.6:c.784+849_784+867del	ENSP00000420412.2:n.784+849_784+867del
ENST00000489037.2:c.1558_1576del	ENSP00000420781.2:p.Met520ValfsTer20
ENST00000493919.6:c.646+849_646+867del	ENSP00000418819.2:n.646+849_646+867del
ENST00000494123.6:c.1636_1654del	ENSP00000419103.2:p.Met546ValfsTer20
ENST00000497488.2:c.748_766del	ENSP00000418986.2:p.Met250ValfsTer20
ENST00000618469.2:c.1636_1654del	ENSP00000478114.2:p.Met546ValfsTer20
ENST00000634433.2:c.1513_1531del	ENSP00000489431.2:p.Met505ValfsTer20
ENST00000644379.2:c.1636_1654del	ENSP00000496570.2:p.Met546ValfsTer20
ENST00000644555.2:c.646+849_646+867del	ENSP00000494614.2:n.646+849_646+867del
ENST00000652672.2:c.1495_1513del	ENSP00000498906.2:p.Met499ValfsTer20
ENST00000484087.6:c.664+849_664+867del	ENSP00000419481.2:n.664+849_664+867del
ENST00000700182.1:c.706+849_706+867del	ENSP00000514849.1:n.706+849_706+867del
ENST00000357654.9:c.1636_1654del MANE Select	ENSP00000350283.3:p.Met546ValfsTer20
ENST00000471181.7:c.1636_1654del	ENSP00000418960.2:p.Met546ValfsTer20
ENST00000652672.1:c.1495_1513del	ENSP00000498906.1:p.Met499ValfsTer20
ENST00000352993.7:c.670+1951_670+1969del	ENSP00000312236.5:n.670+1951_670+1969del
ENST00000354071.7:c.1636_1654del	ENSP00000326002.7:p.Met546ValfsTer20
ENST00000357654.7:c.1636_1654del	ENSP00000350283.3:p.Met546ValfsTer20
ENST00000412061.3:c.987_1005del
ENST00000461221.5:c.*1419_*1437del	ENSP00000418548.1:n.*1419_*1437del
ENST00000468300.5:c.787+849_787+867del	ENSP00000417148.1:n.787+849_787+867del
ENST00000470026.5:c.1636_1654del	ENSP00000419274.1:p.Met546ValfsTer20
ENST00000471181.6:c.1636_1654del	ENSP00000418960.2:p.Met546ValfsTer20
ENST00000477152.5:c.1558_1576del	ENSP00000419988.1:p.Met520ValfsTer20
ENST00000478531.5:c.784+849_784+867del	ENSP00000420412.1:n.784+849_784+867del
ENST00000484087.5:c.409+849_409+867del	ENSP00000419481.1:n.409+849_409+867del
ENST00000487825.5:c.412+849_412+867del	ENSP00000418212.1:n.412+849_412+867del
ENST00000491747.6:c.787+849_787+867del	ENSP00000420705.2:n.787+849_787+867del
ENST00000493795.5:c.1495_1513del	ENSP00000418775.1:p.Met499ValfsTer20
ENST00000493919.5:c.646+849_646+867del	ENSP00000418819.1:n.646+849_646+867del
ENST00000586385.5:c.5-29944_5-29926del	ENSP00000465818.1:n.5-29944_5-29926del
ENST00000591534.5:c.-43-19374_-43-19356del	ENSP00000467329.1:n.-43-19374_-43-19356de...
ENST00000591849.5:c.-99+31376_-99+31394del	ENSP00000465347.1:n.-99+31376_-99+31394de...
ENST00000634433.1:c.1513_1531del	ENSP00000489431.1:p.Met505ValfsTer20
NM_007294.3:c.1636_1654del , LRG_292t1:c.1636_1654del	NP_009225.1:p.Met546ValfsTer20
NM_007297.3:c.1495_1513del	NP_009228.2:p.Met499ValfsTer20
NM_007298.3:c.787+849_787+867del	NP_009229.2:n.787+849_787+867del
NM_007299.3:c.787+849_787+867del	NP_009230.2:n.787+849_787+867del
NM_007300.3:c.1636_1654del	NP_009231.2:p.Met546ValfsTer20
NR_027676.1:n.1772_1790del
NM_007294.4:c.1636_1654del MANE Select	NP_009225.1:p.Met546ValfsTer20
NM_007297.4:c.1495_1513del	NP_009228.2:p.Met499ValfsTer20
NM_007299.4:c.787+849_787+867del	NP_009230.2:n.787+849_787+867del
NM_007300.4:c.1636_1654del	NP_009231.2:p.Met546ValfsTer20
NR_027676.2:n.1813_1831del