Canonical Allele Identifier: CA003669

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045760_43045774del , CM000679.2:g.43045760_43045774del	GRCh38
NC_000017.10:g.41197777_41197791del , CM000679.1:g.41197777_41197791del	GRCh37
NC_000017.9:g.38451303_38451317del	NCBI36
NG_005905.2:g.172214_172228del , LRG_292:g.172214_172228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5497_5511del	ENSP00000417241.2:p.Thr1833_Val1837del
ENST00000470026.6:c.5500_5514del	ENSP00000419274.2:p.Thr1834_Val1838del
ENST00000473961.6:c.5374_5388del	ENSP00000420201.2:p.Thr1792_Val1796del
ENST00000476777.6:c.5494_5508del	ENSP00000417554.2:p.Thr1832_Val1836del
ENST00000477152.6:c.5422_5436del	ENSP00000419988.2:p.Thr1808_Val1812del
ENST00000478531.6:c.2188_2202del	ENSP00000420412.2:p.Thr730_Val734del
ENST00000489037.2:c.5422_5436del	ENSP00000420781.2:p.Thr1808_Val1812del
ENST00000493919.6:c.2050_2064del	ENSP00000418819.2:p.Thr684_Val688del
ENST00000494123.6:c.5500_5514del	ENSP00000419103.2:p.Thr1834_Val1838del
ENST00000497488.2:c.4612_4626del	ENSP00000418986.2:p.Thr1538_Val1542del
ENST00000618469.2:c.5500_5514del	ENSP00000478114.2:p.Thr1834_Val1838del
ENST00000634433.2:c.5377_5391del	ENSP00000489431.2:p.Thr1793_Val1797del
ENST00000644379.2:c.5566_5580del	ENSP00000496570.2:p.Thr1856_Val1860del
ENST00000644555.2:c.2050_2064del	ENSP00000494614.2:p.Thr684_Val688del
ENST00000652672.2:c.5359_5373del	ENSP00000498906.2:p.Thr1787_Val1791del
ENST00000484087.6:c.2062_2076del	ENSP00000419481.2:p.Thr688_Val692del
ENST00000700081.1:n.1383_1397del
ENST00000700082.1:n.864_878del
ENST00000357654.9:c.5500_5514del MANE Select	ENSP00000350283.3:p.Thr1834_Val1838del
ENST00000471181.7:c.5563_5577del	ENSP00000418960.2:p.Thr1855_Val1859del
ENST00000644379.1:c.1887_1901del
ENST00000352993.7:c.2074_2088del	ENSP00000312236.5:p.Thr692_Val696del
ENST00000357654.7:c.5500_5514del	ENSP00000350283.3:p.Thr1834_Val1838del
ENST00000461221.5:c.*5283_*5297del	ENSP00000418548.1:n.*5283_*5297del
ENST00000468300.5:c.*14_*28del	ENSP00000417148.1:n.*14_*28del
ENST00000471181.6:c.5563_5577del	ENSP00000418960.2:p.Thr1855_Val1859del
ENST00000491747.6:c.2188_2202del	ENSP00000420705.2:p.Thr730_Val734del
ENST00000493795.5:c.5359_5373del	ENSP00000418775.1:p.Thr1787_Val1791del
ENST00000586385.5:c.430_444del	ENSP00000465818.1:p.Thr144_Val148del
ENST00000591534.5:c.973_987del	ENSP00000467329.1:p.Thr325_Val329del
ENST00000591849.5:c.199_213del	ENSP00000465347.1:p.Thr67_Val71del
NM_007294.3:c.5500_5514del , LRG_292t1:c.5500_5514del	NP_009225.1:p.Thr1834_Val1838del
NM_007297.3:c.5359_5373del	NP_009228.2:p.Thr1787_Val1791del
NM_007298.3:c.2188_2202del	NP_009229.2:p.Thr730_Val734del
NM_007299.3:c.*14_*28del	NP_009230.2:n.*14_*28del
NM_007300.3:c.5563_5577del	NP_009231.2:p.Thr1855_Val1859del
NR_027676.1:n.5636_5650del
NM_007294.4:c.5500_5514del MANE Select	NP_009225.1:p.Thr1834_Val1838del
NM_007297.4:c.5359_5373del	NP_009228.2:p.Thr1787_Val1791del
NM_007299.4:c.*14_*28del	NP_009230.2:n.*14_*28del
NM_007300.4:c.5563_5577del	NP_009231.2:p.Thr1855_Val1859del
NR_027676.2:n.5677_5691del