Canonical Allele Identifier: CA915950085

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 824552
• ClinVar RCV Id: RCV001021779
• dbSNP Id: rs1597859595

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091469_43091472del , CM000679.2:g.43091469_43091472del	GRCh38
NC_000017.10:g.41243486_41243489del , CM000679.1:g.41243486_41243489del	GRCh37
NC_000017.9:g.38497012_38497015del	NCBI36
NG_005905.2:g.126514_126517del , LRG_292:g.126514_126517del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4125_4128del
ENST00000461574.2:c.4061_4064del	ENSP00000417241.2:p.Asn1354IlefsTer11
ENST00000470026.6:c.4061_4064del	ENSP00000419274.2:p.Asn1354IlefsTer11
ENST00000473961.6:c.3935_3938del	ENSP00000420201.2:p.Asn1312IlefsTer11
ENST00000476777.6:c.4058_4061del	ENSP00000417554.2:p.Asn1353IlefsTer11
ENST00000477152.6:c.3983_3986del	ENSP00000419988.2:p.Asn1328IlefsTer11
ENST00000478531.6:c.785-438_785-435del	ENSP00000420412.2:n.785-438_785-435del
ENST00000489037.2:c.3983_3986del	ENSP00000420781.2:p.Asn1328IlefsTer11
ENST00000493919.6:c.647-438_647-435del	ENSP00000418819.2:n.647-438_647-435del
ENST00000494123.6:c.4061_4064del	ENSP00000419103.2:p.Asn1354IlefsTer11
ENST00000497488.2:c.3173_3176del	ENSP00000418986.2:p.Asn1058IlefsTer11
ENST00000618469.2:c.4061_4064del	ENSP00000478114.2:p.Asn1354IlefsTer11
ENST00000634433.2:c.3938_3941del	ENSP00000489431.2:p.Asn1313IlefsTer11
ENST00000644379.2:c.4061_4064del	ENSP00000496570.2:p.Asn1354IlefsTer11
ENST00000644555.2:c.647-438_647-435del	ENSP00000494614.2:n.647-438_647-435del
ENST00000652672.2:c.3920_3923del	ENSP00000498906.2:p.Asn1307IlefsTer11
ENST00000484087.6:c.665-438_665-435del	ENSP00000419481.2:n.665-438_665-435del
ENST00000700182.1:c.707-438_707-435del	ENSP00000514849.1:n.707-438_707-435del
ENST00000357654.9:c.4061_4064del MANE Select	ENSP00000350283.3:p.Asn1354IlefsTer11
ENST00000471181.7:c.4061_4064del	ENSP00000418960.2:p.Asn1354IlefsTer11
ENST00000644379.1:c.382_385del
ENST00000352993.7:c.671-438_671-435del	ENSP00000312236.5:n.671-438_671-435del
ENST00000354071.7:c.4061_4064del	ENSP00000326002.7:p.Asn1354IlefsTer11
ENST00000357654.7:c.4061_4064del	ENSP00000350283.3:p.Asn1354IlefsTer11
ENST00000461221.5:c.*3844_*3847del	ENSP00000418548.1:n.*3844_*3847del
ENST00000461574.1:c.355_358del
ENST00000468300.5:c.788-438_788-435del	ENSP00000417148.1:n.788-438_788-435del
ENST00000471181.6:c.4061_4064del	ENSP00000418960.2:p.Asn1354IlefsTer11
ENST00000478531.5:c.785-438_785-435del	ENSP00000420412.1:n.785-438_785-435del
ENST00000484087.5:c.410-438_410-435del	ENSP00000419481.1:n.410-438_410-435del
ENST00000487825.5:c.413-438_413-435del	ENSP00000418212.1:n.413-438_413-435del
ENST00000491747.6:c.788-438_788-435del	ENSP00000420705.2:n.788-438_788-435del
ENST00000493795.5:c.3920_3923del	ENSP00000418775.1:p.Asn1307IlefsTer11
ENST00000493919.5:c.647-438_647-435del	ENSP00000418819.1:n.647-438_647-435del
ENST00000586385.5:c.5-27519_5-27516del	ENSP00000465818.1:n.5-27519_5-27516del
ENST00000591534.5:c.-43-16949_-43-16946del	ENSP00000467329.1:n.-43-16949_-43-16946del
ENST00000591849.5:c.-99+33801_-99+33804del	ENSP00000465347.1:n.-99+33801_-99+33804del
NM_007294.3:c.4061_4064del , LRG_292t1:c.4061_4064del	NP_009225.1:p.Asn1354IlefsTer11
NM_007297.3:c.3920_3923del	NP_009228.2:p.Asn1307IlefsTer11
NM_007298.3:c.788-438_788-435del	NP_009229.2:n.788-438_788-435del
NM_007299.3:c.788-438_788-435del	NP_009230.2:n.788-438_788-435del
NM_007300.3:c.4061_4064del	NP_009231.2:p.Asn1354IlefsTer11
NR_027676.1:n.4197_4200del
NM_007294.4:c.4061_4064del MANE Select	NP_009225.1:p.Asn1354IlefsTer11
NM_007297.4:c.3920_3923del	NP_009228.2:p.Asn1307IlefsTer11
NM_007299.4:c.788-438_788-435del	NP_009230.2:n.788-438_788-435del
NM_007300.4:c.4061_4064del	NP_009231.2:p.Asn1354IlefsTer11
NR_027676.2:n.4238_4241del