Canonical Allele Identifier: CA2695225962

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091836_43091837insTT , CM000679.2:g.43091836_43091837insTT	GRCh38
NC_000017.10:g.41243853_41243854insTT , CM000679.1:g.41243853_41243854insTT	GRCh37
NC_000017.9:g.38497379_38497380insTT	NCBI36
NG_005905.2:g.126147_126148insAA , LRG_292:g.126147_126148insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3758_3759insAA
ENST00000461574.2:c.3694_3695insAA	ENSP00000417241.2:p.Gly1232GlufsTer4
ENST00000470026.6:c.3694_3695insAA	ENSP00000419274.2:p.Gly1232GlufsTer4
ENST00000473961.6:c.3568_3569insAA	ENSP00000420201.2:p.Gly1190GlufsTer4
ENST00000476777.6:c.3691_3692insAA	ENSP00000417554.2:p.Gly1231GlufsTer4
ENST00000477152.6:c.3616_3617insAA	ENSP00000419988.2:p.Gly1206GlufsTer4
ENST00000478531.6:c.785-805_785-804insAA	ENSP00000420412.2:n.785-805_785-804insAA
ENST00000489037.2:c.3616_3617insAA	ENSP00000420781.2:p.Gly1206GlufsTer4
ENST00000493919.6:c.647-805_647-804insAA	ENSP00000418819.2:n.647-805_647-804insAA
ENST00000494123.6:c.3694_3695insAA	ENSP00000419103.2:p.Gly1232GlufsTer4
ENST00000497488.2:c.2806_2807insAA	ENSP00000418986.2:p.Gly936GlufsTer4
ENST00000618469.2:c.3694_3695insAA	ENSP00000478114.2:p.Gly1232GlufsTer4
ENST00000634433.2:c.3571_3572insAA	ENSP00000489431.2:p.Gly1191GlufsTer4
ENST00000644379.2:c.3694_3695insAA	ENSP00000496570.2:p.Gly1232GlufsTer4
ENST00000644555.2:c.647-805_647-804insAA	ENSP00000494614.2:n.647-805_647-804insAA
ENST00000652672.2:c.3553_3554insAA	ENSP00000498906.2:p.Gly1185GlufsTer4
ENST00000484087.6:c.665-805_665-804insAA	ENSP00000419481.2:n.665-805_665-804insAA
ENST00000700182.1:c.707-805_707-804insAA	ENSP00000514849.1:n.707-805_707-804insAA
ENST00000357654.9:c.3694_3695insAA MANE Select	ENSP00000350283.3:p.Gly1232GlufsTer4
ENST00000471181.7:c.3694_3695insAA	ENSP00000418960.2:p.Gly1232GlufsTer4
ENST00000644379.1:c.15_16insAA
ENST00000352993.7:c.671-805_671-804insAA	ENSP00000312236.5:n.671-805_671-804insAA
ENST00000354071.7:c.3694_3695insAA	ENSP00000326002.7:p.Gly1232GlufsTer4
ENST00000357654.7:c.3694_3695insAA	ENSP00000350283.3:p.Gly1232GlufsTer4
ENST00000461221.5:c.*3477_*3478insAA	ENSP00000418548.1:n.*3477_*3478insAA
ENST00000468300.5:c.788-805_788-804insAA	ENSP00000417148.1:n.788-805_788-804insAA
ENST00000471181.6:c.3694_3695insAA	ENSP00000418960.2:p.Gly1232GlufsTer4
ENST00000478531.5:c.785-805_785-804insAA	ENSP00000420412.1:n.785-805_785-804insAA
ENST00000484087.5:c.410-805_410-804insAA	ENSP00000419481.1:n.410-805_410-804insAA
ENST00000487825.5:c.413-805_413-804insAA	ENSP00000418212.1:n.413-805_413-804insAA
ENST00000491747.6:c.788-805_788-804insAA	ENSP00000420705.2:n.788-805_788-804insAA
ENST00000493795.5:c.3553_3554insAA	ENSP00000418775.1:p.Gly1185GlufsTer4
ENST00000493919.5:c.647-805_647-804insAA	ENSP00000418819.1:n.647-805_647-804insAA
ENST00000586385.5:c.5-27886_5-27885insAA	ENSP00000465818.1:n.5-27886_5-27885insAA
ENST00000591534.5:c.-43-17316_-43-17315insAA	ENSP00000467329.1:n.-43-17316_-43-17315in...
ENST00000591849.5:c.-99+33434_-99+33435insAA	ENSP00000465347.1:n.-99+33434_-99+33435in...
NM_007294.3:c.3694_3695insAA , LRG_292t1:c.3694_3695insAA	NP_009225.1:p.Gly1232GlufsTer4
NM_007297.3:c.3553_3554insAA	NP_009228.2:p.Gly1185GlufsTer4
NM_007298.3:c.788-805_788-804insAA	NP_009229.2:n.788-805_788-804insAA
NM_007299.3:c.788-805_788-804insAA	NP_009230.2:n.788-805_788-804insAA
NM_007300.3:c.3694_3695insAA	NP_009231.2:p.Gly1232GlufsTer4
NR_027676.1:n.3830_3831insAA
NM_007294.4:c.3694_3695insAA MANE Select	NP_009225.1:p.Gly1232GlufsTer4
NM_007297.4:c.3553_3554insAA	NP_009228.2:p.Gly1185GlufsTer4
NM_007299.4:c.788-805_788-804insAA	NP_009230.2:n.788-805_788-804insAA
NM_007300.4:c.3694_3695insAA	NP_009231.2:p.Gly1232GlufsTer4
NR_027676.2:n.3871_3872insAA