Canonical Allele Identifier: CA2697554271

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2700743
• ClinVar RCV Id: RCV003530465

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093772_43093773del , CM000679.2:g.43093772_43093773del	GRCh38
NC_000017.10:g.41245789_41245790del , CM000679.1:g.41245789_41245790del	GRCh37
NC_000017.9:g.38499315_38499316del	NCBI36
NG_005905.2:g.124213_124214del , LRG_292:g.124213_124214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1824_1825del
ENST00000461574.2:c.1760_1761del	ENSP00000417241.2:p.Ile587LysfsTer20
ENST00000470026.6:c.1760_1761del	ENSP00000419274.2:p.Ile587LysfsTer20
ENST00000473961.6:c.1634_1635del	ENSP00000420201.2:p.Ile545LysfsTer20
ENST00000476777.6:c.1757_1758del	ENSP00000417554.2:p.Ile586LysfsTer20
ENST00000477152.6:c.1682_1683del	ENSP00000419988.2:p.Ile561LysfsTer20
ENST00000478531.6:c.784+973_784+974del	ENSP00000420412.2:n.784+973_784+974del
ENST00000489037.2:c.1682_1683del	ENSP00000420781.2:p.Ile561LysfsTer20
ENST00000493919.6:c.646+973_646+974del	ENSP00000418819.2:n.646+973_646+974del
ENST00000494123.6:c.1760_1761del	ENSP00000419103.2:p.Ile587LysfsTer20
ENST00000497488.2:c.872_873del	ENSP00000418986.2:p.Ile291LysfsTer20
ENST00000618469.2:c.1760_1761del	ENSP00000478114.2:p.Ile587LysfsTer20
ENST00000634433.2:c.1637_1638del	ENSP00000489431.2:p.Ile546LysfsTer20
ENST00000644379.2:c.1760_1761del	ENSP00000496570.2:p.Ile587LysfsTer20
ENST00000644555.2:c.646+973_646+974del	ENSP00000494614.2:n.646+973_646+974del
ENST00000652672.2:c.1619_1620del	ENSP00000498906.2:p.Ile540LysfsTer20
ENST00000484087.6:c.664+973_664+974del	ENSP00000419481.2:n.664+973_664+974del
ENST00000700182.1:c.706+973_706+974del	ENSP00000514849.1:n.706+973_706+974del
ENST00000357654.9:c.1760_1761del MANE Select	ENSP00000350283.3:p.Ile587LysfsTer20
ENST00000471181.7:c.1760_1761del	ENSP00000418960.2:p.Ile587LysfsTer20
ENST00000652672.1:c.1619_1620del	ENSP00000498906.1:p.Ile540LysfsTer20
ENST00000352993.7:c.670+2075_670+2076del	ENSP00000312236.5:n.670+2075_670+2076del
ENST00000354071.7:c.1760_1761del	ENSP00000326002.7:p.Ile587LysfsTer20
ENST00000357654.7:c.1760_1761del	ENSP00000350283.3:p.Ile587LysfsTer20
ENST00000412061.3:c.1111_1112del
ENST00000461221.5:c.*1543_*1544del	ENSP00000418548.1:n.*1543_*1544del
ENST00000468300.5:c.787+973_787+974del	ENSP00000417148.1:n.787+973_787+974del
ENST00000470026.5:c.1760_1761del	ENSP00000419274.1:p.Ile587LysfsTer20
ENST00000471181.6:c.1760_1761del	ENSP00000418960.2:p.Ile587LysfsTer20
ENST00000477152.5:c.1682_1683del	ENSP00000419988.1:p.Ile561LysfsTer20
ENST00000478531.5:c.784+973_784+974del	ENSP00000420412.1:n.784+973_784+974del
ENST00000484087.5:c.409+973_409+974del	ENSP00000419481.1:n.409+973_409+974del
ENST00000487825.5:c.412+973_412+974del	ENSP00000418212.1:n.412+973_412+974del
ENST00000491747.6:c.787+973_787+974del	ENSP00000420705.2:n.787+973_787+974del
ENST00000493795.5:c.1619_1620del	ENSP00000418775.1:p.Ile540LysfsTer20
ENST00000493919.5:c.646+973_646+974del	ENSP00000418819.1:n.646+973_646+974del
ENST00000586385.5:c.5-29820_5-29819del	ENSP00000465818.1:n.5-29820_5-29819del
ENST00000591534.5:c.-43-19250_-43-19249del	ENSP00000467329.1:n.-43-19250_-43-19249del
ENST00000591849.5:c.-99+31500_-99+31501del	ENSP00000465347.1:n.-99+31500_-99+31501del
ENST00000634433.1:c.1637_1638del	ENSP00000489431.1:p.Ile546LysfsTer20
NM_007294.3:c.1760_1761del , LRG_292t1:c.1760_1761del	NP_009225.1:p.Ile587LysfsTer20
NM_007297.3:c.1619_1620del	NP_009228.2:p.Ile540LysfsTer20
NM_007298.3:c.787+973_787+974del	NP_009229.2:n.787+973_787+974del
NM_007299.3:c.787+973_787+974del	NP_009230.2:n.787+973_787+974del
NM_007300.3:c.1760_1761del	NP_009231.2:p.Ile587LysfsTer20
NR_027676.1:n.1896_1897del
NM_007294.4:c.1760_1761del MANE Select	NP_009225.1:p.Ile587LysfsTer20
NM_007297.4:c.1619_1620del	NP_009228.2:p.Ile540LysfsTer20
NM_007299.4:c.787+973_787+974del	NP_009230.2:n.787+973_787+974del
NM_007300.4:c.1760_1761del	NP_009231.2:p.Ile587LysfsTer20
NR_027676.2:n.1937_1938del