Canonical Allele Identifier: CA2695225950

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091575_43091576del , CM000679.2:g.43091575_43091576del	GRCh38
NC_000017.10:g.41243592_41243593del , CM000679.1:g.41243592_41243593del	GRCh37
NC_000017.9:g.38497118_38497119del	NCBI36
NG_005905.2:g.126408_126409del , LRG_292:g.126408_126409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4019_4020del
ENST00000461574.2:c.3955_3956del	ENSP00000417241.2:p.Gly1319PhefsTer10
ENST00000470026.6:c.3955_3956del	ENSP00000419274.2:p.Gly1319PhefsTer10
ENST00000473961.6:c.3829_3830del	ENSP00000420201.2:p.Gly1277PhefsTer10
ENST00000476777.6:c.3952_3953del	ENSP00000417554.2:p.Gly1318PhefsTer10
ENST00000477152.6:c.3877_3878del	ENSP00000419988.2:p.Gly1293PhefsTer10
ENST00000478531.6:c.785-544_785-543del	ENSP00000420412.2:n.785-544_785-543del
ENST00000489037.2:c.3877_3878del	ENSP00000420781.2:p.Gly1293PhefsTer10
ENST00000493919.6:c.647-544_647-543del	ENSP00000418819.2:n.647-544_647-543del
ENST00000494123.6:c.3955_3956del	ENSP00000419103.2:p.Gly1319PhefsTer10
ENST00000497488.2:c.3067_3068del	ENSP00000418986.2:p.Gly1023PhefsTer10
ENST00000618469.2:c.3955_3956del	ENSP00000478114.2:p.Gly1319PhefsTer10
ENST00000634433.2:c.3832_3833del	ENSP00000489431.2:p.Gly1278PhefsTer10
ENST00000644379.2:c.3955_3956del	ENSP00000496570.2:p.Gly1319PhefsTer10
ENST00000644555.2:c.647-544_647-543del	ENSP00000494614.2:n.647-544_647-543del
ENST00000652672.2:c.3814_3815del	ENSP00000498906.2:p.Gly1272PhefsTer10
ENST00000484087.6:c.665-544_665-543del	ENSP00000419481.2:n.665-544_665-543del
ENST00000700182.1:c.707-544_707-543del	ENSP00000514849.1:n.707-544_707-543del
ENST00000357654.9:c.3955_3956del MANE Select	ENSP00000350283.3:p.Gly1319PhefsTer10
ENST00000471181.7:c.3955_3956del	ENSP00000418960.2:p.Gly1319PhefsTer10
ENST00000644379.1:c.276_277del
ENST00000352993.7:c.671-544_671-543del	ENSP00000312236.5:n.671-544_671-543del
ENST00000354071.7:c.3955_3956del	ENSP00000326002.7:p.Gly1319PhefsTer10
ENST00000357654.7:c.3955_3956del	ENSP00000350283.3:p.Gly1319PhefsTer10
ENST00000461221.5:c.*3738_*3739del	ENSP00000418548.1:n.*3738_*3739del
ENST00000461574.1:c.249_250del
ENST00000468300.5:c.788-544_788-543del	ENSP00000417148.1:n.788-544_788-543del
ENST00000471181.6:c.3955_3956del	ENSP00000418960.2:p.Gly1319PhefsTer10
ENST00000478531.5:c.785-544_785-543del	ENSP00000420412.1:n.785-544_785-543del
ENST00000484087.5:c.410-544_410-543del	ENSP00000419481.1:n.410-544_410-543del
ENST00000487825.5:c.413-544_413-543del	ENSP00000418212.1:n.413-544_413-543del
ENST00000491747.6:c.788-544_788-543del	ENSP00000420705.2:n.788-544_788-543del
ENST00000493795.5:c.3814_3815del	ENSP00000418775.1:p.Gly1272PhefsTer10
ENST00000493919.5:c.647-544_647-543del	ENSP00000418819.1:n.647-544_647-543del
ENST00000586385.5:c.5-27625_5-27624del	ENSP00000465818.1:n.5-27625_5-27624del
ENST00000591534.5:c.-43-17055_-43-17054del	ENSP00000467329.1:n.-43-17055_-43-17054de...
ENST00000591849.5:c.-99+33695_-99+33696del	ENSP00000465347.1:n.-99+33695_-99+33696de...
NM_007294.3:c.3955_3956del , LRG_292t1:c.3955_3956del	NP_009225.1:p.Gly1319PhefsTer10
NM_007297.3:c.3814_3815del	NP_009228.2:p.Gly1272PhefsTer10
NM_007298.3:c.788-544_788-543del	NP_009229.2:n.788-544_788-543del
NM_007299.3:c.788-544_788-543del	NP_009230.2:n.788-544_788-543del
NM_007300.3:c.3955_3956del	NP_009231.2:p.Gly1319PhefsTer10
NR_027676.1:n.4091_4092del
NM_007294.4:c.3955_3956del MANE Select	NP_009225.1:p.Gly1319PhefsTer10
NM_007297.4:c.3814_3815del	NP_009228.2:p.Gly1272PhefsTer10
NM_007299.4:c.788-544_788-543del	NP_009230.2:n.788-544_788-543del
NM_007300.4:c.3955_3956del	NP_009231.2:p.Gly1319PhefsTer10
NR_027676.2:n.4132_4133del