Canonical Allele Identifier: CA2260781950

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091466_43091470delinsATTAT , CM000679.2:g.43091466_43091470delinsATTAT	GRCh38
NC_000017.10:g.41243483_41243487delinsATTAT , CM000679.1:g.41243483_41243487delinsATTAT	GRCh37
NC_000017.9:g.38497009_38497013delinsATTAT	NCBI36
NG_005905.2:g.126514_126518delinsATAAT , LRG_292:g.126514_126518delinsATAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4125_4129delinsATAAT
ENST00000461574.2:c.4061_4065delinsATAAT	ENSP00000417241.2:p.Asn1354=
ENST00000470026.6:c.4061_4065delinsATAAT	ENSP00000419274.2:p.Asn1354=
ENST00000473961.6:c.3935_3939delinsATAAT	ENSP00000420201.2:p.Asn1312=
ENST00000476777.6:c.4058_4062delinsATAAT	ENSP00000417554.2:p.Asn1353=
ENST00000477152.6:c.3983_3987delinsATAAT	ENSP00000419988.2:p.Asn1328=
ENST00000478531.6:c.785-438_785-434delinsATAAT	ENSP00000420412.2:n.785-438_785-434delinsATAAT
ENST00000489037.2:c.3983_3987delinsATAAT	ENSP00000420781.2:p.Asn1328=
ENST00000493919.6:c.647-438_647-434delinsATAAT	ENSP00000418819.2:n.647-438_647-434delinsATAAT
ENST00000494123.6:c.4061_4065delinsATAAT	ENSP00000419103.2:p.Asn1354=
ENST00000497488.2:c.3173_3177delinsATAAT	ENSP00000418986.2:p.Asn1058=
ENST00000618469.2:c.4061_4065delinsATAAT	ENSP00000478114.2:p.Asn1354=
ENST00000634433.2:c.3938_3942delinsATAAT	ENSP00000489431.2:p.Asn1313=
ENST00000644379.2:c.4061_4065delinsATAAT	ENSP00000496570.2:p.Asn1354=
ENST00000644555.2:c.647-438_647-434delinsATAAT	ENSP00000494614.2:n.647-438_647-434delinsATAAT
ENST00000652672.2:c.3920_3924delinsATAAT	ENSP00000498906.2:p.Asn1307=
ENST00000484087.6:c.665-438_665-434delinsATAAT	ENSP00000419481.2:n.665-438_665-434delinsATAAT
ENST00000700182.1:c.707-438_707-434delinsATAAT	ENSP00000514849.1:n.707-438_707-434delinsATAAT
ENST00000357654.9:c.4061_4065delinsATAAT MANE Select	ENSP00000350283.3:p.Asn1354=
ENST00000471181.7:c.4061_4065delinsATAAT	ENSP00000418960.2:p.Asn1354=
ENST00000644379.1:c.382_386delinsATAAT
ENST00000352993.7:c.671-438_671-434delinsATAAT	ENSP00000312236.5:n.671-438_671-434delinsATAAT
ENST00000354071.7:c.4061_4065delinsATAAT	ENSP00000326002.7:p.Asn1354=
ENST00000357654.7:c.4061_4065delinsATAAT	ENSP00000350283.3:p.Asn1354=
ENST00000461221.5:c.*3844_*3848delinsATAAT	ENSP00000418548.1:n.*3844_*3848delinsATAAT
ENST00000461574.1:c.355_359delinsATAAT
ENST00000468300.5:c.788-438_788-434delinsATAAT	ENSP00000417148.1:n.788-438_788-434delinsATAAT
ENST00000471181.6:c.4061_4065delinsATAAT	ENSP00000418960.2:p.Asn1354=
ENST00000478531.5:c.785-438_785-434delinsATAAT	ENSP00000420412.1:n.785-438_785-434delinsATAAT
ENST00000484087.5:c.410-438_410-434delinsATAAT	ENSP00000419481.1:n.410-438_410-434delinsATAAT
ENST00000487825.5:c.413-438_413-434delinsATAAT	ENSP00000418212.1:n.413-438_413-434delinsATAAT
ENST00000491747.6:c.788-438_788-434delinsATAAT	ENSP00000420705.2:n.788-438_788-434delinsATAAT
ENST00000493795.5:c.3920_3924delinsATAAT	ENSP00000418775.1:p.Asn1307=
ENST00000493919.5:c.647-438_647-434delinsATAAT	ENSP00000418819.1:n.647-438_647-434delinsATAAT
ENST00000586385.5:c.5-27519_5-27515delinsATAAT	ENSP00000465818.1:n.5-27519_5-27515delinsATAAT
ENST00000591534.5:c.-43-16949_-43-16945delinsATAAT	ENSP00000467329.1:n.-43-16949_-43-16945delinsATAAT
ENST00000591849.5:c.-99+33801_-99+33805delinsATAAT	ENSP00000465347.1:n.-99+33801_-99+33805delinsATAAT
NM_007294.3:c.4061_4065delinsATAAT , LRG_292t1:c.4061_4065delinsATAAT	NP_009225.1:p.Asn1354=
NM_007297.3:c.3920_3924delinsATAAT	NP_009228.2:p.Asn1307=
NM_007298.3:c.788-438_788-434delinsATAAT	NP_009229.2:n.788-438_788-434delinsATAAT
NM_007299.3:c.788-438_788-434delinsATAAT	NP_009230.2:n.788-438_788-434delinsATAAT
NM_007300.3:c.4061_4065delinsATAAT	NP_009231.2:p.Asn1354=
NR_027676.1:n.4197_4201delinsATAAT
NM_007294.4:c.4061_4065delinsATAAT MANE Select	NP_009225.1:p.Asn1354=
NM_007297.4:c.3920_3924delinsATAAT	NP_009228.2:p.Asn1307=
NM_007299.4:c.788-438_788-434delinsATAAT	NP_009230.2:n.788-438_788-434delinsATAAT
NM_007300.4:c.4061_4065delinsATAAT	NP_009231.2:p.Asn1354=
NR_027676.2:n.4238_4242delinsATAAT