Canonical Allele Identifier: CA2695226000

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093302_43093303insC , CM000679.2:g.43093302_43093303insC	GRCh38
NC_000017.10:g.41245319_41245320insC , CM000679.1:g.41245319_41245320insC	GRCh37
NC_000017.9:g.38498845_38498846insC	NCBI36
NG_005905.2:g.124681_124682insG , LRG_292:g.124681_124682insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2292_2293insG
ENST00000461574.2:c.2228_2229insG	ENSP00000417241.2:p.Asn743LysfsTer3
ENST00000470026.6:c.2228_2229insG	ENSP00000419274.2:p.Asn743LysfsTer3
ENST00000473961.6:c.2102_2103insG	ENSP00000420201.2:p.Asn701LysfsTer3
ENST00000476777.6:c.2225_2226insG	ENSP00000417554.2:p.Asn742LysfsTer3
ENST00000477152.6:c.2150_2151insG	ENSP00000419988.2:p.Asn717LysfsTer3
ENST00000478531.6:c.784+1441_784+1442insG	ENSP00000420412.2:n.784+1441_784+1442insG
ENST00000489037.2:c.2150_2151insG	ENSP00000420781.2:p.Asn717LysfsTer3
ENST00000493919.6:c.646+1441_646+1442insG	ENSP00000418819.2:n.646+1441_646+1442insG
ENST00000494123.6:c.2228_2229insG	ENSP00000419103.2:p.Asn743LysfsTer3
ENST00000497488.2:c.1340_1341insG	ENSP00000418986.2:p.Asn447LysfsTer3
ENST00000618469.2:c.2228_2229insG	ENSP00000478114.2:p.Asn743LysfsTer3
ENST00000634433.2:c.2105_2106insG	ENSP00000489431.2:p.Asn702LysfsTer3
ENST00000644379.2:c.2228_2229insG	ENSP00000496570.2:p.Asn743LysfsTer3
ENST00000644555.2:c.646+1441_646+1442insG	ENSP00000494614.2:n.646+1441_646+1442insG
ENST00000652672.2:c.2087_2088insG	ENSP00000498906.2:p.Asn696LysfsTer3
ENST00000484087.6:c.664+1441_664+1442insG	ENSP00000419481.2:n.664+1441_664+1442insG
ENST00000700182.1:c.706+1441_706+1442insG	ENSP00000514849.1:n.706+1441_706+1442insG
ENST00000357654.9:c.2228_2229insG MANE Select	ENSP00000350283.3:p.Asn743LysfsTer3
ENST00000471181.7:c.2228_2229insG	ENSP00000418960.2:p.Asn743LysfsTer3
ENST00000352993.7:c.671-2271_671-2270insG	ENSP00000312236.5:n.671-2271_671-2270insG
ENST00000354071.7:c.2228_2229insG	ENSP00000326002.7:p.Asn743LysfsTer3
ENST00000357654.7:c.2228_2229insG	ENSP00000350283.3:p.Asn743LysfsTer3
ENST00000461221.5:c.*2011_*2012insG	ENSP00000418548.1:n.*2011_*2012insG
ENST00000468300.5:c.787+1441_787+1442insG	ENSP00000417148.1:n.787+1441_787+1442insG
ENST00000471181.6:c.2228_2229insG	ENSP00000418960.2:p.Asn743LysfsTer3
ENST00000478531.5:c.784+1441_784+1442insG	ENSP00000420412.1:n.784+1441_784+1442insG
ENST00000484087.5:c.409+1441_409+1442insG	ENSP00000419481.1:n.409+1441_409+1442insG
ENST00000487825.5:c.412+1441_412+1442insG	ENSP00000418212.1:n.412+1441_412+1442insG
ENST00000491747.6:c.787+1441_787+1442insG	ENSP00000420705.2:n.787+1441_787+1442insG
ENST00000493795.5:c.2087_2088insG	ENSP00000418775.1:p.Asn696LysfsTer3
ENST00000493919.5:c.646+1441_646+1442insG	ENSP00000418819.1:n.646+1441_646+1442insG
ENST00000586385.5:c.5-29352_5-29351insG	ENSP00000465818.1:n.5-29352_5-29351insG
ENST00000591534.5:c.-43-18782_-43-18781insG	ENSP00000467329.1:n.-43-18782_-43-18781insG
ENST00000591849.5:c.-99+31968_-99+31969insG	ENSP00000465347.1:n.-99+31968_-99+31969insG
ENST00000634433.1:c.2105_2106insG	ENSP00000489431.1:p.Asn702LysfsTer3
NM_007294.3:c.2228_2229insG , LRG_292t1:c.2228_2229insG	NP_009225.1:p.Asn743LysfsTer3
NM_007297.3:c.2087_2088insG	NP_009228.2:p.Asn696LysfsTer3
NM_007298.3:c.787+1441_787+1442insG	NP_009229.2:n.787+1441_787+1442insG
NM_007299.3:c.787+1441_787+1442insG	NP_009230.2:n.787+1441_787+1442insG
NM_007300.3:c.2228_2229insG	NP_009231.2:p.Asn743LysfsTer3
NR_027676.1:n.2364_2365insG
NM_007294.4:c.2228_2229insG MANE Select	NP_009225.1:p.Asn743LysfsTer3
NM_007297.4:c.2087_2088insG	NP_009228.2:p.Asn696LysfsTer3
NM_007299.4:c.787+1441_787+1442insG	NP_009230.2:n.787+1441_787+1442insG
NM_007300.4:c.2228_2229insG	NP_009231.2:p.Asn743LysfsTer3
NR_027676.2:n.2405_2406insG