Canonical Allele Identifier: CA2260783695

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093192_43093194delinsTGA , CM000679.2:g.43093192_43093194delinsTGA	GRCh38
NC_000017.10:g.41245209_41245211delinsTGA , CM000679.1:g.41245209_41245211delinsTGA	GRCh37
NC_000017.9:g.38498735_38498737delinsTGA	NCBI36
NG_005905.2:g.124790_124792delinsTCA , LRG_292:g.124790_124792delinsTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2401_2403delinsTCA
ENST00000461574.2:c.2337_2339delinsTCA	ENSP00000417241.2:p.Thr779=
ENST00000470026.6:c.2337_2339delinsTCA	ENSP00000419274.2:p.Thr779=
ENST00000473961.6:c.2211_2213delinsTCA	ENSP00000420201.2:p.Thr737=
ENST00000476777.6:c.2334_2336delinsTCA	ENSP00000417554.2:p.Thr778=
ENST00000477152.6:c.2259_2261delinsTCA	ENSP00000419988.2:p.Thr753=
ENST00000478531.6:c.784+1550_784+1552delinsTCA	ENSP00000420412.2:n.784+1550_784+1552delinsTCA
ENST00000489037.2:c.2259_2261delinsTCA	ENSP00000420781.2:p.Thr753=
ENST00000493919.6:c.646+1550_646+1552delinsTCA	ENSP00000418819.2:n.646+1550_646+1552delinsTCA
ENST00000494123.6:c.2337_2339delinsTCA	ENSP00000419103.2:p.Thr779=
ENST00000497488.2:c.1449_1451delinsTCA	ENSP00000418986.2:p.Thr483=
ENST00000618469.2:c.2337_2339delinsTCA	ENSP00000478114.2:p.Thr779=
ENST00000634433.2:c.2214_2216delinsTCA	ENSP00000489431.2:p.Thr738=
ENST00000644379.2:c.2337_2339delinsTCA	ENSP00000496570.2:p.Thr779=
ENST00000644555.2:c.646+1550_646+1552delinsTCA	ENSP00000494614.2:n.646+1550_646+1552delinsTCA
ENST00000652672.2:c.2196_2198delinsTCA	ENSP00000498906.2:p.Thr732=
ENST00000484087.6:c.664+1550_664+1552delinsTCA	ENSP00000419481.2:n.664+1550_664+1552delinsTCA
ENST00000700182.1:c.706+1550_706+1552delinsTCA	ENSP00000514849.1:n.706+1550_706+1552delinsTCA
ENST00000357654.9:c.2337_2339delinsTCA MANE Select	ENSP00000350283.3:p.Thr779=
ENST00000471181.7:c.2337_2339delinsTCA	ENSP00000418960.2:p.Thr779=
ENST00000352993.7:c.671-2162_671-2160delinsTCA	ENSP00000312236.5:n.671-2162_671-2160delinsTCA
ENST00000354071.7:c.2337_2339delinsTCA	ENSP00000326002.7:p.Thr779=
ENST00000357654.7:c.2337_2339delinsTCA	ENSP00000350283.3:p.Thr779=
ENST00000461221.5:c.*2120_*2122delinsTCA	ENSP00000418548.1:n.*2120_*2122delinsTCA
ENST00000468300.5:c.787+1550_787+1552delinsTCA	ENSP00000417148.1:n.787+1550_787+1552delinsTCA
ENST00000471181.6:c.2337_2339delinsTCA	ENSP00000418960.2:p.Thr779=
ENST00000478531.5:c.784+1550_784+1552delinsTCA	ENSP00000420412.1:n.784+1550_784+1552delinsTCA
ENST00000484087.5:c.409+1550_409+1552delinsTCA	ENSP00000419481.1:n.409+1550_409+1552delinsTCA
ENST00000487825.5:c.412+1550_412+1552delinsTCA	ENSP00000418212.1:n.412+1550_412+1552delinsTCA
ENST00000491747.6:c.787+1550_787+1552delinsTCA	ENSP00000420705.2:n.787+1550_787+1552delinsTCA
ENST00000493795.5:c.2196_2198delinsTCA	ENSP00000418775.1:p.Thr732=
ENST00000493919.5:c.646+1550_646+1552delinsTCA	ENSP00000418819.1:n.646+1550_646+1552delinsTCA
ENST00000586385.5:c.5-29243_5-29241delinsTCA	ENSP00000465818.1:n.5-29243_5-29241delinsTCA
ENST00000591534.5:c.-43-18673_-43-18671delinsTCA	ENSP00000467329.1:n.-43-18673_-43-18671delinsTCA
ENST00000591849.5:c.-99+32077_-99+32079delinsTCA	ENSP00000465347.1:n.-99+32077_-99+32079delinsTCA
ENST00000634433.1:c.2214_2216delinsTCA	ENSP00000489431.1:p.Thr738=
NM_007294.3:c.2337_2339delinsTCA , LRG_292t1:c.2337_2339delinsTCA	NP_009225.1:p.Thr779=
NM_007297.3:c.2196_2198delinsTCA	NP_009228.2:p.Thr732=
NM_007298.3:c.787+1550_787+1552delinsTCA	NP_009229.2:n.787+1550_787+1552delinsTCA
NM_007299.3:c.787+1550_787+1552delinsTCA	NP_009230.2:n.787+1550_787+1552delinsTCA
NM_007300.3:c.2337_2339delinsTCA	NP_009231.2:p.Thr779=
NR_027676.1:n.2473_2475delinsTCA
NM_007294.4:c.2337_2339delinsTCA MANE Select	NP_009225.1:p.Thr779=
NM_007297.4:c.2196_2198delinsTCA	NP_009228.2:p.Thr732=
NM_007299.4:c.787+1550_787+1552delinsTCA	NP_009230.2:n.787+1550_787+1552delinsTCA
NM_007300.4:c.2337_2339delinsTCA	NP_009231.2:p.Thr779=
NR_027676.2:n.2514_2516delinsTCA