Canonical Allele Identifier: CA10589967

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094428del , CM000679.2:g.43094428del	GRCh38
NC_000017.10:g.41246445del , CM000679.1:g.41246445del	GRCh37
NC_000017.9:g.38499971del	NCBI36
NG_005905.2:g.123557del , LRG_292:g.123557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1168del
ENST00000461574.2:c.1104del	ENSP00000417241.2:p.Asp369MetfsTer5
ENST00000470026.6:c.1104del	ENSP00000419274.2:p.Asp369MetfsTer5
ENST00000473961.6:c.978del	ENSP00000420201.2:p.Asp327MetfsTer5
ENST00000476777.6:c.1101del	ENSP00000417554.2:p.Asp368MetfsTer5
ENST00000477152.6:c.1026del	ENSP00000419988.2:p.Asp343MetfsTer5
ENST00000478531.6:c.784+317del	ENSP00000420412.2:n.784+317del
ENST00000489037.2:c.1026del	ENSP00000420781.2:p.Asp343MetfsTer5
ENST00000493919.6:c.646+317del	ENSP00000418819.2:n.646+317del
ENST00000494123.6:c.1104del	ENSP00000419103.2:p.Asp369MetfsTer5
ENST00000497488.2:c.216del	ENSP00000418986.2:p.Asp73MetfsTer5
ENST00000618469.2:c.1104del	ENSP00000478114.2:p.Asp369MetfsTer5
ENST00000634433.2:c.981del	ENSP00000489431.2:p.Asp328MetfsTer5
ENST00000644379.2:c.1104del	ENSP00000496570.2:p.Asp369MetfsTer5
ENST00000644555.2:c.646+317del	ENSP00000494614.2:n.646+317del
ENST00000652672.2:c.963del	ENSP00000498906.2:p.Asp322MetfsTer5
ENST00000484087.6:c.664+317del	ENSP00000419481.2:n.664+317del
ENST00000700182.1:c.706+317del	ENSP00000514849.1:n.706+317del
ENST00000700183.1:c.*1112del	ENSP00000514850.1:n.*1112del
ENST00000357654.9:c.1104del MANE Select	ENSP00000350283.3:p.Asp369MetfsTer5
ENST00000471181.7:c.1104del	ENSP00000418960.2:p.Asp369MetfsTer5
ENST00000652672.1:c.963del	ENSP00000498906.1:p.Asp322MetfsTer5
ENST00000352993.7:c.670+1419del	ENSP00000312236.5:n.670+1419del
ENST00000354071.7:c.1104del	ENSP00000326002.7:p.Asp369MetfsTer5
ENST00000357654.7:c.1104del	ENSP00000350283.3:p.Asp369MetfsTer5
ENST00000412061.3:c.455del
ENST00000461221.5:c.*887del	ENSP00000418548.1:n.*887del
ENST00000468300.5:c.787+317del	ENSP00000417148.1:n.787+317del
ENST00000470026.5:c.1104del	ENSP00000419274.1:p.Asp369MetfsTer5
ENST00000471181.6:c.1104del	ENSP00000418960.2:p.Asp369MetfsTer5
ENST00000473961.5:c.701del
ENST00000477152.5:c.1026del	ENSP00000419988.1:p.Asp343MetfsTer5
ENST00000478531.5:c.784+317del	ENSP00000420412.1:n.784+317del
ENST00000484087.5:c.409+317del	ENSP00000419481.1:n.409+317del
ENST00000487825.5:c.412+317del	ENSP00000418212.1:n.412+317del
ENST00000491747.6:c.787+317del	ENSP00000420705.2:n.787+317del
ENST00000492859.5:c.*1040del	ENSP00000420253.1:n.*1040del
ENST00000493795.5:c.963del	ENSP00000418775.1:p.Asp322MetfsTer5
ENST00000493919.5:c.646+317del	ENSP00000418819.1:n.646+317del
ENST00000494123.5:c.1104del	ENSP00000419103.1:p.Asp369MetfsTer5
ENST00000497488.1:c.216del	ENSP00000418986.1:p.Asp73MetfsTer5
ENST00000586385.5:c.5-30476del	ENSP00000465818.1:n.5-30476del
ENST00000591534.5:c.-43-19906del	ENSP00000467329.1:n.-43-19906del
ENST00000591849.5:c.-99+30844del	ENSP00000465347.1:n.-99+30844del
ENST00000634433.1:c.981del	ENSP00000489431.1:p.Asp328MetfsTer5
NM_007294.3:c.1104del , LRG_292t1:c.1104del	NP_009225.1:p.Asp369MetfsTer5
NM_007297.3:c.963del	NP_009228.2:p.Asp322MetfsTer5
NM_007298.3:c.787+317del	NP_009229.2:n.787+317del
NM_007299.3:c.787+317del	NP_009230.2:n.787+317del
NM_007300.3:c.1104del	NP_009231.2:p.Asp369MetfsTer5
NR_027676.1:n.1240del
NM_007294.4:c.1104del MANE Select	NP_009225.1:p.Asp369MetfsTer5
NM_007297.4:c.963del	NP_009228.2:p.Asp322MetfsTer5
NM_007299.4:c.787+317del	NP_009230.2:n.787+317del
NM_007300.4:c.1104del	NP_009231.2:p.Asp369MetfsTer5
NR_027676.2:n.1281del