Canonical Allele Identifier: CA2260785231

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094735_43094737delinsCAG , CM000679.2:g.43094735_43094737delinsCAG	GRCh38
NC_000017.10:g.41246752_41246754delinsCAG , CM000679.1:g.41246752_41246754delinsCAG	GRCh37
NC_000017.9:g.38500278_38500280delinsCAG	NCBI36
NG_005905.2:g.123247_123249delinsCTG , LRG_292:g.123247_123249delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.858_860delinsCTG
ENST00000461574.2:c.794_796delinsCTG	ENSP00000417241.2:p.Ser265=
ENST00000470026.6:c.794_796delinsCTG	ENSP00000419274.2:p.Ser265=
ENST00000473961.6:c.668_670delinsCTG	ENSP00000420201.2:p.Ser223=
ENST00000476777.6:c.791_793delinsCTG	ENSP00000417554.2:p.Ser264=
ENST00000477152.6:c.716_718delinsCTG	ENSP00000419988.2:p.Ser239=
ENST00000478531.6:c.784+7_784+9delinsCTG	ENSP00000420412.2:n.784+7_784+9delinsCTG
ENST00000489037.2:c.716_718delinsCTG	ENSP00000420781.2:p.Ser239=
ENST00000493919.6:c.646+7_646+9delinsCTG	ENSP00000418819.2:n.646+7_646+9delinsCTG
ENST00000494123.6:c.794_796delinsCTG	ENSP00000419103.2:p.Ser265=
ENST00000497488.2:c.-95_-93delinsCTG	ENSP00000418986.2:n.-95_-93delinsCTG
ENST00000618469.2:c.794_796delinsCTG	ENSP00000478114.2:p.Ser265=
ENST00000634433.2:c.671_673delinsCTG	ENSP00000489431.2:p.Ser224=
ENST00000644379.2:c.794_796delinsCTG	ENSP00000496570.2:p.Ser265=
ENST00000644555.2:c.646+7_646+9delinsCTG	ENSP00000494614.2:n.646+7_646+9delinsCTG
ENST00000652672.2:c.653_655delinsCTG	ENSP00000498906.2:p.Ser218=
ENST00000484087.6:c.664+7_664+9delinsCTG	ENSP00000419481.2:n.664+7_664+9delinsCTG
ENST00000700182.1:c.706+7_706+9delinsCTG	ENSP00000514849.1:n.706+7_706+9delinsCTG
ENST00000700183.1:c.*802_*804delinsCTG	ENSP00000514850.1:n.*802_*804delinsCTG
ENST00000357654.9:c.794_796delinsCTG MANE Select	ENSP00000350283.3:p.Ser265=
ENST00000471181.7:c.794_796delinsCTG	ENSP00000418960.2:p.Ser265=
ENST00000642945.1:c.*668_*670delinsCTG	ENSP00000495897.1:n.*668_*670delinsCTG
ENST00000652672.1:c.653_655delinsCTG	ENSP00000498906.1:p.Ser218=
ENST00000352993.7:c.670+1109_670+1111delinsCTG	ENSP00000312236.5:n.670+1109_670+1111delinsCTG
ENST00000354071.7:c.794_796delinsCTG	ENSP00000326002.7:p.Ser265=
ENST00000357654.7:c.794_796delinsCTG	ENSP00000350283.3:p.Ser265=
ENST00000412061.3:c.145_147delinsCTG
ENST00000461221.5:c.*577_*579delinsCTG	ENSP00000418548.1:n.*577_*579delinsCTG
ENST00000468300.5:c.787+7_787+9delinsCTG	ENSP00000417148.1:n.787+7_787+9delinsCTG
ENST00000470026.5:c.794_796delinsCTG	ENSP00000419274.1:p.Ser265=
ENST00000471181.6:c.794_796delinsCTG	ENSP00000418960.2:p.Ser265=
ENST00000473961.5:c.391_393delinsCTG
ENST00000477152.5:c.716_718delinsCTG	ENSP00000419988.1:p.Ser239=
ENST00000478531.5:c.784+7_784+9delinsCTG	ENSP00000420412.1:n.784+7_784+9delinsCTG
ENST00000484087.5:c.409+7_409+9delinsCTG	ENSP00000419481.1:n.409+7_409+9delinsCTG
ENST00000487825.5:c.412+7_412+9delinsCTG	ENSP00000418212.1:n.412+7_412+9delinsCTG
ENST00000491747.6:c.787+7_787+9delinsCTG	ENSP00000420705.2:n.787+7_787+9delinsCTG
ENST00000492859.5:c.*730_*732delinsCTG	ENSP00000420253.1:n.*730_*732delinsCTG
ENST00000493795.5:c.653_655delinsCTG	ENSP00000418775.1:p.Ser218=
ENST00000493919.5:c.646+7_646+9delinsCTG	ENSP00000418819.1:n.646+7_646+9delinsCTG
ENST00000494123.5:c.794_796delinsCTG	ENSP00000419103.1:p.Ser265=
ENST00000497488.1:c.-95_-93delinsCTG	ENSP00000418986.1:n.-95_-93delinsCTG
ENST00000586385.5:c.4+30445_4+30447delinsCTG	ENSP00000465818.1:n.4+30445_4+30447delinsCTG
ENST00000591534.5:c.-43-20216_-43-20214delinsCTG	ENSP00000467329.1:n.-43-20216_-43-20214delinsCTG
ENST00000591849.5:c.-99+30534_-99+30536delinsCTG	ENSP00000465347.1:n.-99+30534_-99+30536delinsCTG
ENST00000634433.1:c.671_673delinsCTG	ENSP00000489431.1:p.Ser224=
NM_007294.3:c.794_796delinsCTG , LRG_292t1:c.794_796delinsCTG	NP_009225.1:p.Ser265=
NM_007297.3:c.653_655delinsCTG	NP_009228.2:p.Ser218=
NM_007298.3:c.787+7_787+9delinsCTG	NP_009229.2:n.787+7_787+9delinsCTG
NM_007299.3:c.787+7_787+9delinsCTG	NP_009230.2:n.787+7_787+9delinsCTG
NM_007300.3:c.794_796delinsCTG	NP_009231.2:p.Ser265=
NR_027676.1:n.930_932delinsCTG
NM_007294.4:c.794_796delinsCTG MANE Select	NP_009225.1:p.Ser265=
NM_007297.4:c.653_655delinsCTG	NP_009228.2:p.Ser218=
NM_007299.4:c.787+7_787+9delinsCTG	NP_009230.2:n.787+7_787+9delinsCTG
NM_007300.4:c.794_796delinsCTG	NP_009231.2:p.Ser265=
NR_027676.2:n.971_973delinsCTG