Canonical Allele Identifier: CA1139665616

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 967660
• ClinVar RCV Id: RCV001242626
• dbSNP Id: rs2053570708

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091998_43092000delinsTT , CM000679.2:g.43091998_43092000delinsTT	GRCh38
NC_000017.10:g.41244015_41244017delinsTT , CM000679.1:g.41244015_41244017delinsTT	GRCh37
NC_000017.9:g.38497541_38497543delinsTT	NCBI36
NG_005905.2:g.125984_125986delinsAA , LRG_292:g.125984_125986delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3595_3597delinsAA
ENST00000461574.2:c.3531_3533delinsAA	ENSP00000417241.2:p.Phe1177LeufsTer?
ENST00000470026.6:c.3531_3533delinsAA	ENSP00000419274.2:p.Phe1177LeufsTer?
ENST00000473961.6:c.3405_3407delinsAA	ENSP00000420201.2:p.Phe1135LeufsTer?
ENST00000476777.6:c.3528_3530delinsAA	ENSP00000417554.2:p.Phe1176LeufsTer?
ENST00000477152.6:c.3453_3455delinsAA	ENSP00000419988.2:p.Phe1151LeufsTer?
ENST00000478531.6:c.785-968_785-966delinsAA	ENSP00000420412.2:n.785-968_785-966delinsAA
ENST00000489037.2:c.3453_3455delinsAA	ENSP00000420781.2:p.Phe1151LeufsTer?
ENST00000493919.6:c.647-968_647-966delinsAA	ENSP00000418819.2:n.647-968_647-966delinsAA
ENST00000494123.6:c.3531_3533delinsAA	ENSP00000419103.2:p.Phe1177LeufsTer?
ENST00000497488.2:c.2643_2645delinsAA	ENSP00000418986.2:p.Phe881LeufsTer?
ENST00000618469.2:c.3531_3533delinsAA	ENSP00000478114.2:p.Phe1177LeufsTer?
ENST00000634433.2:c.3408_3410delinsAA	ENSP00000489431.2:p.Phe1136LeufsTer?
ENST00000644379.2:c.3531_3533delinsAA	ENSP00000496570.2:p.Phe1177LeufsTer?
ENST00000644555.2:c.647-968_647-966delinsAA	ENSP00000494614.2:n.647-968_647-966delinsAA
ENST00000652672.2:c.3390_3392delinsAA	ENSP00000498906.2:p.Phe1130LeufsTer?
ENST00000484087.6:c.665-968_665-966delinsAA	ENSP00000419481.2:n.665-968_665-966delinsAA
ENST00000700182.1:c.707-968_707-966delinsAA	ENSP00000514849.1:n.707-968_707-966delinsAA
ENST00000357654.9:c.3531_3533delinsAA MANE Select	ENSP00000350283.3:p.Phe1177LeufsTer?
ENST00000471181.7:c.3531_3533delinsAA	ENSP00000418960.2:p.Phe1177LeufsTer?
ENST00000352993.7:c.671-968_671-966delinsAA	ENSP00000312236.5:n.671-968_671-966delinsAA
ENST00000354071.7:c.3531_3533delinsAA	ENSP00000326002.7:p.Phe1177LeufsTer?
ENST00000357654.7:c.3531_3533delinsAA	ENSP00000350283.3:p.Phe1177LeufsTer?
ENST00000461221.5:c.*3314_*3316delinsAA	ENSP00000418548.1:n.*3314_*3316delinsAA
ENST00000468300.5:c.788-968_788-966delinsAA	ENSP00000417148.1:n.788-968_788-966delinsAA
ENST00000471181.6:c.3531_3533delinsAA	ENSP00000418960.2:p.Phe1177LeufsTer?
ENST00000478531.5:c.785-968_785-966delinsAA	ENSP00000420412.1:n.785-968_785-966delinsAA
ENST00000484087.5:c.410-968_410-966delinsAA	ENSP00000419481.1:n.410-968_410-966delinsAA
ENST00000487825.5:c.413-968_413-966delinsAA	ENSP00000418212.1:n.413-968_413-966delinsAA
ENST00000491747.6:c.788-968_788-966delinsAA	ENSP00000420705.2:n.788-968_788-966delinsAA
ENST00000493795.5:c.3390_3392delinsAA	ENSP00000418775.1:p.Phe1130LeufsTer?
ENST00000493919.5:c.647-968_647-966delinsAA	ENSP00000418819.1:n.647-968_647-966delinsAA
ENST00000586385.5:c.5-28049_5-28047delinsAA	ENSP00000465818.1:n.5-28049_5-28047delinsAA
ENST00000591534.5:c.-43-17479_-43-17477delinsAA	ENSP00000467329.1:n.-43-17479_-43-17477delinsAA
ENST00000591849.5:c.-99+33271_-99+33273delinsAA	ENSP00000465347.1:n.-99+33271_-99+33273delinsAA
NM_007294.3:c.3531_3533delinsAA , LRG_292t1:c.3531_3533delinsAA	NP_009225.1:p.Phe1177LeufsTer?
NM_007297.3:c.3390_3392delinsAA	NP_009228.2:p.Phe1130LeufsTer?
NM_007298.3:c.788-968_788-966delinsAA	NP_009229.2:n.788-968_788-966delinsAA
NM_007299.3:c.788-968_788-966delinsAA	NP_009230.2:n.788-968_788-966delinsAA
NM_007300.3:c.3531_3533delinsAA	NP_009231.2:p.Phe1177LeufsTer?
NR_027676.1:n.3667_3669delinsAA
NM_007294.4:c.3531_3533delinsAA MANE Select	NP_009225.1:p.Phe1177LeufsTer?
NM_007297.4:c.3390_3392delinsAA	NP_009228.2:p.Phe1130LeufsTer?
NM_007299.4:c.788-968_788-966delinsAA	NP_009230.2:n.788-968_788-966delinsAA
NM_007300.4:c.3531_3533delinsAA	NP_009231.2:p.Phe1177LeufsTer?
NR_027676.2:n.3708_3710delinsAA