Canonical Allele Identifier: CA2638036269

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43045733-T-TGGTAGAGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045734_43045743dup , CM000679.2:g.43045734_43045743dup	GRCh38
NC_000017.10:g.41197751_41197760dup , CM000679.1:g.41197751_41197760dup	GRCh37
NC_000017.9:g.38451277_38451286dup	NCBI36
NG_005905.2:g.172241_172250dup , LRG_292:g.172241_172250dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5524_5533dup	ENSP00000417241.2:p.Gln1845ArgfsTer?
ENST00000470026.6:c.5527_5536dup	ENSP00000419274.2:p.Gln1846ArgfsTer?
ENST00000473961.6:c.5401_5410dup	ENSP00000420201.2:p.Gln1804ArgfsTer?
ENST00000476777.6:c.5521_5530dup	ENSP00000417554.2:p.Gln1844ArgfsTer?
ENST00000477152.6:c.5449_5458dup	ENSP00000419988.2:p.Gln1820ArgfsTer?
ENST00000478531.6:c.2215_2224dup	ENSP00000420412.2:p.Gln742ArgfsTer?
ENST00000489037.2:c.5449_5458dup	ENSP00000420781.2:p.Gln1820ArgfsTer?
ENST00000493919.6:c.2077_2086dup	ENSP00000418819.2:p.Gln696ArgfsTer?
ENST00000494123.6:c.5527_5536dup	ENSP00000419103.2:p.Gln1846ArgfsTer?
ENST00000497488.2:c.4639_4648dup	ENSP00000418986.2:p.Gln1550ArgfsTer?
ENST00000618469.2:c.5527_5536dup	ENSP00000478114.2:p.Gln1846ArgfsTer?
ENST00000634433.2:c.5404_5413dup	ENSP00000489431.2:p.Gln1805ArgfsTer?
ENST00000644379.2:c.5593_5602dup	ENSP00000496570.2:p.Gln1868ArgfsTer?
ENST00000644555.2:c.2077_2086dup	ENSP00000494614.2:p.Gln696ArgfsTer?
ENST00000652672.2:c.5386_5395dup	ENSP00000498906.2:p.Gln1799ArgfsTer?
ENST00000484087.6:c.2089_2098dup	ENSP00000419481.2:p.Gln700ArgfsTer?
ENST00000700081.1:n.1410_1419dup
ENST00000700082.1:n.891_900dup
ENST00000357654.9:c.5527_5536dup MANE Select	ENSP00000350283.3:p.Gln1846ArgfsTer?
ENST00000471181.7:c.5590_5599dup	ENSP00000418960.2:p.Gln1867ArgfsTer?
ENST00000644379.1:c.1914_1923dup
ENST00000352993.7:c.2101_2110dup	ENSP00000312236.5:p.Gln704ArgfsTer?
ENST00000357654.7:c.5527_5536dup	ENSP00000350283.3:p.Gln1846ArgfsTer?
ENST00000461221.5:c.*5310_*5319dup	ENSP00000418548.1:n.*5310_*5319dup
ENST00000468300.5:c.*41_*50dup	ENSP00000417148.1:n.*41_*50dup
ENST00000471181.6:c.5590_5599dup	ENSP00000418960.2:p.Gln1867ArgfsTer?
ENST00000491747.6:c.2215_2224dup	ENSP00000420705.2:p.Gln742ArgfsTer?
ENST00000493795.5:c.5386_5395dup	ENSP00000418775.1:p.Gln1799ArgfsTer?
ENST00000586385.5:c.457_466dup	ENSP00000465818.1:p.Gln156ArgfsTer?
ENST00000591534.5:c.1000_1009dup	ENSP00000467329.1:p.Gln337ArgfsTer?
ENST00000591849.5:c.226_235dup	ENSP00000465347.1:p.Gln79ArgfsTer?
NM_007294.3:c.5527_5536dup , LRG_292t1:c.5527_5536dup	NP_009225.1:p.Gln1846ArgfsTer?
NM_007297.3:c.5386_5395dup	NP_009228.2:p.Gln1799ArgfsTer?
NM_007298.3:c.2215_2224dup	NP_009229.2:p.Gln742ArgfsTer?
NM_007299.3:c.*41_*50dup	NP_009230.2:n.*41_*50dup
NM_007300.3:c.5590_5599dup	NP_009231.2:p.Gln1867ArgfsTer?
NR_027676.1:n.5663_5672dup
NM_007294.4:c.5527_5536dup MANE Select	NP_009225.1:p.Gln1846ArgfsTer?
NM_007297.4:c.5386_5395dup	NP_009228.2:p.Gln1799ArgfsTer?
NM_007299.4:c.*41_*50dup	NP_009230.2:n.*41_*50dup
NM_007300.4:c.5590_5599dup	NP_009231.2:p.Gln1867ArgfsTer?
NR_027676.2:n.5704_5713dup