Canonical Allele Identifier: CA2260783952

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093425_43093426delinsTA , CM000679.2:g.43093425_43093426delinsTA	GRCh38
NC_000017.10:g.41245442_41245443delinsTA , CM000679.1:g.41245442_41245443delinsTA	GRCh37
NC_000017.9:g.38498968_38498969delinsTA	NCBI36
NG_005905.2:g.124558_124559delinsTA , LRG_292:g.124558_124559delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2169_2170delinsTA
ENST00000461574.2:c.2105_2106delinsTA	ENSP00000417241.2:p.Leu702=
ENST00000470026.6:c.2105_2106delinsTA	ENSP00000419274.2:p.Leu702=
ENST00000473961.6:c.1979_1980delinsTA	ENSP00000420201.2:p.Leu660=
ENST00000476777.6:c.2102_2103delinsTA	ENSP00000417554.2:p.Leu701=
ENST00000477152.6:c.2027_2028delinsTA	ENSP00000419988.2:p.Leu676=
ENST00000478531.6:c.784+1318_784+1319delinsTA	ENSP00000420412.2:n.784+1318_784+1319delinsTA
ENST00000489037.2:c.2027_2028delinsTA	ENSP00000420781.2:p.Leu676=
ENST00000493919.6:c.646+1318_646+1319delinsTA	ENSP00000418819.2:n.646+1318_646+1319delinsTA
ENST00000494123.6:c.2105_2106delinsTA	ENSP00000419103.2:p.Leu702=
ENST00000497488.2:c.1217_1218delinsTA	ENSP00000418986.2:p.Leu406=
ENST00000618469.2:c.2105_2106delinsTA	ENSP00000478114.2:p.Leu702=
ENST00000634433.2:c.1982_1983delinsTA	ENSP00000489431.2:p.Leu661=
ENST00000644379.2:c.2105_2106delinsTA	ENSP00000496570.2:p.Leu702=
ENST00000644555.2:c.646+1318_646+1319delinsTA	ENSP00000494614.2:n.646+1318_646+1319delinsTA
ENST00000652672.2:c.1964_1965delinsTA	ENSP00000498906.2:p.Leu655=
ENST00000484087.6:c.664+1318_664+1319delinsTA	ENSP00000419481.2:n.664+1318_664+1319delinsTA
ENST00000700182.1:c.706+1318_706+1319delinsTA	ENSP00000514849.1:n.706+1318_706+1319delinsTA
ENST00000357654.9:c.2105_2106delinsTA MANE Select	ENSP00000350283.3:p.Leu702=
ENST00000471181.7:c.2105_2106delinsTA	ENSP00000418960.2:p.Leu702=
ENST00000352993.7:c.671-2394_671-2393delinsTA	ENSP00000312236.5:n.671-2394_671-2393delinsTA
ENST00000354071.7:c.2105_2106delinsTA	ENSP00000326002.7:p.Leu702=
ENST00000357654.7:c.2105_2106delinsTA	ENSP00000350283.3:p.Leu702=
ENST00000461221.5:c.*1888_*1889delinsTA	ENSP00000418548.1:n.*1888_*1889delinsTA
ENST00000468300.5:c.787+1318_787+1319delinsTA	ENSP00000417148.1:n.787+1318_787+1319delinsTA
ENST00000471181.6:c.2105_2106delinsTA	ENSP00000418960.2:p.Leu702=
ENST00000478531.5:c.784+1318_784+1319delinsTA	ENSP00000420412.1:n.784+1318_784+1319delinsTA
ENST00000484087.5:c.409+1318_409+1319delinsTA	ENSP00000419481.1:n.409+1318_409+1319delinsTA
ENST00000487825.5:c.412+1318_412+1319delinsTA	ENSP00000418212.1:n.412+1318_412+1319delinsTA
ENST00000491747.6:c.787+1318_787+1319delinsTA	ENSP00000420705.2:n.787+1318_787+1319delinsTA
ENST00000493795.5:c.1964_1965delinsTA	ENSP00000418775.1:p.Leu655=
ENST00000493919.5:c.646+1318_646+1319delinsTA	ENSP00000418819.1:n.646+1318_646+1319delinsTA
ENST00000586385.5:c.5-29475_5-29474delinsTA	ENSP00000465818.1:n.5-29475_5-29474delinsTA
ENST00000591534.5:c.-43-18905_-43-18904delinsTA	ENSP00000467329.1:n.-43-18905_-43-18904delinsTA
ENST00000591849.5:c.-99+31845_-99+31846delinsTA	ENSP00000465347.1:n.-99+31845_-99+31846delinsTA
ENST00000634433.1:c.1982_1983delinsTA	ENSP00000489431.1:p.Leu661=
NM_007294.3:c.2105_2106delinsTA , LRG_292t1:c.2105_2106delinsTA	NP_009225.1:p.Leu702=
NM_007297.3:c.1964_1965delinsTA	NP_009228.2:p.Leu655=
NM_007298.3:c.787+1318_787+1319delinsTA	NP_009229.2:n.787+1318_787+1319delinsTA
NM_007299.3:c.787+1318_787+1319delinsTA	NP_009230.2:n.787+1318_787+1319delinsTA
NM_007300.3:c.2105_2106delinsTA	NP_009231.2:p.Leu702=
NR_027676.1:n.2241_2242delinsTA
NM_007294.4:c.2105_2106delinsTA MANE Select	NP_009225.1:p.Leu702=
NM_007297.4:c.1964_1965delinsTA	NP_009228.2:p.Leu655=
NM_007299.4:c.787+1318_787+1319delinsTA	NP_009230.2:n.787+1318_787+1319delinsTA
NM_007300.4:c.2105_2106delinsTA	NP_009231.2:p.Leu702=
NR_027676.2:n.2282_2283delinsTA