Canonical Allele Identifier: CA2695225945

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091484_43091485delinsT , CM000679.2:g.43091484_43091485delinsT	GRCh38
NC_000017.10:g.41243501_41243502delinsT , CM000679.1:g.41243501_41243502delinsT	GRCh37
NC_000017.9:g.38497027_38497028delinsT	NCBI36
NG_005905.2:g.126499_126500delinsA , LRG_292:g.126499_126500delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4110_4111delinsA
ENST00000461574.2:c.4046_4047delinsA	ENSP00000417241.2:p.Thr1349LysfsTer17
ENST00000470026.6:c.4046_4047delinsA	ENSP00000419274.2:p.Thr1349LysfsTer17
ENST00000473961.6:c.3920_3921delinsA	ENSP00000420201.2:p.Thr1307LysfsTer17
ENST00000476777.6:c.4043_4044delinsA	ENSP00000417554.2:p.Thr1348LysfsTer17
ENST00000477152.6:c.3968_3969delinsA	ENSP00000419988.2:p.Thr1323LysfsTer17
ENST00000478531.6:c.785-453_785-452delinsA	ENSP00000420412.2:n.785-453_785-452delinsA
ENST00000489037.2:c.3968_3969delinsA	ENSP00000420781.2:p.Thr1323LysfsTer17
ENST00000493919.6:c.647-453_647-452delinsA	ENSP00000418819.2:n.647-453_647-452delinsA
ENST00000494123.6:c.4046_4047delinsA	ENSP00000419103.2:p.Thr1349LysfsTer17
ENST00000497488.2:c.3158_3159delinsA	ENSP00000418986.2:p.Thr1053LysfsTer17
ENST00000618469.2:c.4046_4047delinsA	ENSP00000478114.2:p.Thr1349LysfsTer17
ENST00000634433.2:c.3923_3924delinsA	ENSP00000489431.2:p.Thr1308LysfsTer17
ENST00000644379.2:c.4046_4047delinsA	ENSP00000496570.2:p.Thr1349LysfsTer17
ENST00000644555.2:c.647-453_647-452delinsA	ENSP00000494614.2:n.647-453_647-452delinsA
ENST00000652672.2:c.3905_3906delinsA	ENSP00000498906.2:p.Thr1302LysfsTer17
ENST00000484087.6:c.665-453_665-452delinsA	ENSP00000419481.2:n.665-453_665-452delinsA
ENST00000700182.1:c.707-453_707-452delinsA	ENSP00000514849.1:n.707-453_707-452delinsA
ENST00000357654.9:c.4046_4047delinsA MANE Select	ENSP00000350283.3:p.Thr1349LysfsTer17
ENST00000471181.7:c.4046_4047delinsA	ENSP00000418960.2:p.Thr1349LysfsTer17
ENST00000644379.1:c.367_368delinsA
ENST00000352993.7:c.671-453_671-452delinsA	ENSP00000312236.5:n.671-453_671-452delinsA
ENST00000354071.7:c.4046_4047delinsA	ENSP00000326002.7:p.Thr1349LysfsTer17
ENST00000357654.7:c.4046_4047delinsA	ENSP00000350283.3:p.Thr1349LysfsTer17
ENST00000461221.5:c.*3829_*3830delinsA	ENSP00000418548.1:n.*3829_*3830delinsA
ENST00000461574.1:c.340_341delinsA
ENST00000468300.5:c.788-453_788-452delinsA	ENSP00000417148.1:n.788-453_788-452delinsA
ENST00000471181.6:c.4046_4047delinsA	ENSP00000418960.2:p.Thr1349LysfsTer17
ENST00000478531.5:c.785-453_785-452delinsA	ENSP00000420412.1:n.785-453_785-452delinsA
ENST00000484087.5:c.410-453_410-452delinsA	ENSP00000419481.1:n.410-453_410-452delinsA
ENST00000487825.5:c.413-453_413-452delinsA	ENSP00000418212.1:n.413-453_413-452delinsA
ENST00000491747.6:c.788-453_788-452delinsA	ENSP00000420705.2:n.788-453_788-452delinsA
ENST00000493795.5:c.3905_3906delinsA	ENSP00000418775.1:p.Thr1302LysfsTer17
ENST00000493919.5:c.647-453_647-452delinsA	ENSP00000418819.1:n.647-453_647-452delinsA
ENST00000586385.5:c.5-27534_5-27533delinsA	ENSP00000465818.1:n.5-27534_5-27533delinsA
ENST00000591534.5:c.-43-16964_-43-16963delinsA	ENSP00000467329.1:n.-43-16964_-43-16963delinsA
ENST00000591849.5:c.-99+33786_-99+33787delinsA	ENSP00000465347.1:n.-99+33786_-99+33787delinsA
NM_007294.3:c.4046_4047delinsA , LRG_292t1:c.4046_4047delinsA	NP_009225.1:p.Thr1349LysfsTer17
NM_007297.3:c.3905_3906delinsA	NP_009228.2:p.Thr1302LysfsTer17
NM_007298.3:c.788-453_788-452delinsA	NP_009229.2:n.788-453_788-452delinsA
NM_007299.3:c.788-453_788-452delinsA	NP_009230.2:n.788-453_788-452delinsA
NM_007300.3:c.4046_4047delinsA	NP_009231.2:p.Thr1349LysfsTer17
NR_027676.1:n.4182_4183delinsA
NM_007294.4:c.4046_4047delinsA MANE Select	NP_009225.1:p.Thr1349LysfsTer17
NM_007297.4:c.3905_3906delinsA	NP_009228.2:p.Thr1302LysfsTer17
NM_007299.4:c.788-453_788-452delinsA	NP_009230.2:n.788-453_788-452delinsA
NM_007300.4:c.4046_4047delinsA	NP_009231.2:p.Thr1349LysfsTer17
NR_027676.2:n.4223_4224delinsA