Canonical Allele Identifier: CA2499224567

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094544_43094545dup , CM000679.2:g.43094544_43094545dup	GRCh38
NC_000017.10:g.41246561_41246562dup , CM000679.1:g.41246561_41246562dup	GRCh37
NC_000017.9:g.38500087_38500088dup	NCBI36
NG_005905.2:g.123439_123440dup , LRG_292:g.123439_123440dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1050_1051dup
ENST00000461574.2:c.986_987dup	ENSP00000417241.2:p.Asp330MetfsTer12
ENST00000470026.6:c.986_987dup	ENSP00000419274.2:p.Asp330MetfsTer12
ENST00000473961.6:c.860_861dup	ENSP00000420201.2:p.Asp288MetfsTer12
ENST00000476777.6:c.983_984dup	ENSP00000417554.2:p.Asp329MetfsTer12
ENST00000477152.6:c.908_909dup	ENSP00000419988.2:p.Asp304MetfsTer12
ENST00000478531.6:c.784+199_784+200dup	ENSP00000420412.2:n.784+199_784+200dup
ENST00000489037.2:c.908_909dup	ENSP00000420781.2:p.Asp304MetfsTer12
ENST00000493919.6:c.646+199_646+200dup	ENSP00000418819.2:n.646+199_646+200dup
ENST00000494123.6:c.986_987dup	ENSP00000419103.2:p.Asp330MetfsTer12
ENST00000497488.2:c.98_99dup	ENSP00000418986.2:p.Asp34MetfsTer12
ENST00000618469.2:c.986_987dup	ENSP00000478114.2:p.Asp330MetfsTer12
ENST00000634433.2:c.863_864dup	ENSP00000489431.2:p.Asp289MetfsTer12
ENST00000644379.2:c.986_987dup	ENSP00000496570.2:p.Asp330MetfsTer12
ENST00000644555.2:c.646+199_646+200dup	ENSP00000494614.2:n.646+199_646+200dup
ENST00000652672.2:c.845_846dup	ENSP00000498906.2:p.Asp283MetfsTer12
ENST00000484087.6:c.664+199_664+200dup	ENSP00000419481.2:n.664+199_664+200dup
ENST00000700182.1:c.706+199_706+200dup	ENSP00000514849.1:n.706+199_706+200dup
ENST00000700183.1:c.*994_*995dup	ENSP00000514850.1:n.*994_*995dup
ENST00000357654.9:c.986_987dup MANE Select	ENSP00000350283.3:p.Asp330MetfsTer12
ENST00000471181.7:c.986_987dup	ENSP00000418960.2:p.Asp330MetfsTer12
ENST00000642945.1:c.*860_*861dup	ENSP00000495897.1:n.*860_*861dup
ENST00000652672.1:c.845_846dup	ENSP00000498906.1:p.Asp283MetfsTer12
ENST00000352993.7:c.670+1301_670+1302dup	ENSP00000312236.5:n.670+1301_670+1302dup
ENST00000354071.7:c.986_987dup	ENSP00000326002.7:p.Asp330MetfsTer12
ENST00000357654.7:c.986_987dup	ENSP00000350283.3:p.Asp330MetfsTer12
ENST00000412061.3:c.337_338dup
ENST00000461221.5:c.*769_*770dup	ENSP00000418548.1:n.*769_*770dup
ENST00000468300.5:c.787+199_787+200dup	ENSP00000417148.1:n.787+199_787+200dup
ENST00000470026.5:c.986_987dup	ENSP00000419274.1:p.Asp330MetfsTer12
ENST00000471181.6:c.986_987dup	ENSP00000418960.2:p.Asp330MetfsTer12
ENST00000473961.5:c.583_584dup
ENST00000477152.5:c.908_909dup	ENSP00000419988.1:p.Asp304MetfsTer12
ENST00000478531.5:c.784+199_784+200dup	ENSP00000420412.1:n.784+199_784+200dup
ENST00000484087.5:c.409+199_409+200dup	ENSP00000419481.1:n.409+199_409+200dup
ENST00000487825.5:c.412+199_412+200dup	ENSP00000418212.1:n.412+199_412+200dup
ENST00000491747.6:c.787+199_787+200dup	ENSP00000420705.2:n.787+199_787+200dup
ENST00000492859.5:c.*922_*923dup	ENSP00000420253.1:n.*922_*923dup
ENST00000493795.5:c.845_846dup	ENSP00000418775.1:p.Asp283MetfsTer12
ENST00000493919.5:c.646+199_646+200dup	ENSP00000418819.1:n.646+199_646+200dup
ENST00000494123.5:c.986_987dup	ENSP00000419103.1:p.Asp330MetfsTer12
ENST00000497488.1:c.98_99dup	ENSP00000418986.1:p.Asp34MetfsTer12
ENST00000586385.5:c.5-30594_5-30593dup	ENSP00000465818.1:n.5-30594_5-30593dup
ENST00000591534.5:c.-43-20024_-43-20023dup	ENSP00000467329.1:n.-43-20024_-43-20023du...
ENST00000591849.5:c.-99+30726_-99+30727dup	ENSP00000465347.1:n.-99+30726_-99+30727du...
ENST00000634433.1:c.863_864dup	ENSP00000489431.1:p.Asp289MetfsTer12
NM_007294.3:c.986_987dup , LRG_292t1:c.986_987dup	NP_009225.1:p.Asp330MetfsTer12
NM_007297.3:c.845_846dup	NP_009228.2:p.Asp283MetfsTer12
NM_007298.3:c.787+199_787+200dup	NP_009229.2:n.787+199_787+200dup
NM_007299.3:c.787+199_787+200dup	NP_009230.2:n.787+199_787+200dup
NM_007300.3:c.986_987dup	NP_009231.2:p.Asp330MetfsTer12
NR_027676.1:n.1122_1123dup
NM_007294.4:c.986_987dup MANE Select	NP_009225.1:p.Asp330MetfsTer12
NM_007297.4:c.845_846dup	NP_009228.2:p.Asp283MetfsTer12
NM_007299.4:c.787+199_787+200dup	NP_009230.2:n.787+199_787+200dup
NM_007300.4:c.986_987dup	NP_009231.2:p.Asp330MetfsTer12
NR_027676.2:n.1163_1164dup