Canonical Allele Identifier: CA2260783571

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093073_43093074delinsTG , CM000679.2:g.43093073_43093074delinsTG	GRCh38
NC_000017.10:g.41245090_41245091delinsTG , CM000679.1:g.41245090_41245091delinsTG	GRCh37
NC_000017.9:g.38498616_38498617delinsTG	NCBI36
NG_005905.2:g.124910_124911delinsCA , LRG_292:g.124910_124911delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2521_2522delinsCA
ENST00000461574.2:c.2457_2458delinsCA	ENSP00000417241.2:p.Ser819=
ENST00000470026.6:c.2457_2458delinsCA	ENSP00000419274.2:p.Ser819=
ENST00000473961.6:c.2331_2332delinsCA	ENSP00000420201.2:p.Ser777=
ENST00000476777.6:c.2454_2455delinsCA	ENSP00000417554.2:p.Ser818=
ENST00000477152.6:c.2379_2380delinsCA	ENSP00000419988.2:p.Ser793=
ENST00000478531.6:c.784+1670_784+1671delinsCA	ENSP00000420412.2:n.784+1670_784+1671delinsCA
ENST00000489037.2:c.2379_2380delinsCA	ENSP00000420781.2:p.Ser793=
ENST00000493919.6:c.646+1670_646+1671delinsCA	ENSP00000418819.2:n.646+1670_646+1671delinsCA
ENST00000494123.6:c.2457_2458delinsCA	ENSP00000419103.2:p.Ser819=
ENST00000497488.2:c.1569_1570delinsCA	ENSP00000418986.2:p.Ser523=
ENST00000618469.2:c.2457_2458delinsCA	ENSP00000478114.2:p.Ser819=
ENST00000634433.2:c.2334_2335delinsCA	ENSP00000489431.2:p.Ser778=
ENST00000644379.2:c.2457_2458delinsCA	ENSP00000496570.2:p.Ser819=
ENST00000644555.2:c.646+1670_646+1671delinsCA	ENSP00000494614.2:n.646+1670_646+1671delinsCA
ENST00000652672.2:c.2316_2317delinsCA	ENSP00000498906.2:p.Ser772=
ENST00000484087.6:c.664+1670_664+1671delinsCA	ENSP00000419481.2:n.664+1670_664+1671delinsCA
ENST00000700182.1:c.706+1670_706+1671delinsCA	ENSP00000514849.1:n.706+1670_706+1671delinsCA
ENST00000357654.9:c.2457_2458delinsCA MANE Select	ENSP00000350283.3:p.Ser819=
ENST00000471181.7:c.2457_2458delinsCA	ENSP00000418960.2:p.Ser819=
ENST00000352993.7:c.671-2042_671-2041delinsCA	ENSP00000312236.5:n.671-2042_671-2041delinsCA
ENST00000354071.7:c.2457_2458delinsCA	ENSP00000326002.7:p.Ser819=
ENST00000357654.7:c.2457_2458delinsCA	ENSP00000350283.3:p.Ser819=
ENST00000461221.5:c.*2240_*2241delinsCA	ENSP00000418548.1:n.*2240_*2241delinsCA
ENST00000468300.5:c.787+1670_787+1671delinsCA	ENSP00000417148.1:n.787+1670_787+1671delinsCA
ENST00000471181.6:c.2457_2458delinsCA	ENSP00000418960.2:p.Ser819=
ENST00000478531.5:c.784+1670_784+1671delinsCA	ENSP00000420412.1:n.784+1670_784+1671delinsCA
ENST00000484087.5:c.409+1670_409+1671delinsCA	ENSP00000419481.1:n.409+1670_409+1671delinsCA
ENST00000487825.5:c.412+1670_412+1671delinsCA	ENSP00000418212.1:n.412+1670_412+1671delinsCA
ENST00000491747.6:c.787+1670_787+1671delinsCA	ENSP00000420705.2:n.787+1670_787+1671delinsCA
ENST00000493795.5:c.2316_2317delinsCA	ENSP00000418775.1:p.Ser772=
ENST00000493919.5:c.646+1670_646+1671delinsCA	ENSP00000418819.1:n.646+1670_646+1671delinsCA
ENST00000586385.5:c.5-29123_5-29122delinsCA	ENSP00000465818.1:n.5-29123_5-29122delinsCA
ENST00000591534.5:c.-43-18553_-43-18552delinsCA	ENSP00000467329.1:n.-43-18553_-43-18552delinsCA
ENST00000591849.5:c.-99+32197_-99+32198delinsCA	ENSP00000465347.1:n.-99+32197_-99+32198delinsCA
ENST00000634433.1:c.2334_2335delinsCA	ENSP00000489431.1:p.Ser778=
NM_007294.3:c.2457_2458delinsCA , LRG_292t1:c.2457_2458delinsCA	NP_009225.1:p.Ser819=
NM_007297.3:c.2316_2317delinsCA	NP_009228.2:p.Ser772=
NM_007298.3:c.787+1670_787+1671delinsCA	NP_009229.2:n.787+1670_787+1671delinsCA
NM_007299.3:c.787+1670_787+1671delinsCA	NP_009230.2:n.787+1670_787+1671delinsCA
NM_007300.3:c.2457_2458delinsCA	NP_009231.2:p.Ser819=
NR_027676.1:n.2593_2594delinsCA
NM_007294.4:c.2457_2458delinsCA MANE Select	NP_009225.1:p.Ser819=
NM_007297.4:c.2316_2317delinsCA	NP_009228.2:p.Ser772=
NM_007299.4:c.787+1670_787+1671delinsCA	NP_009230.2:n.787+1670_787+1671delinsCA
NM_007300.4:c.2457_2458delinsCA	NP_009231.2:p.Ser819=
NR_027676.2:n.2634_2635delinsCA