Canonical Allele Identifier: CA055378

Gene: BRCA1

Linked Data

• dbSNP Id: rs746607568
• ExAC: 17:41197713 GATCT / G
• gnomAD v2: 17-41197713-GATCT-G
• gnomAD v4: 17-43045696-GATCT-G
• COSMIC: COSM4167795 ; COSM4167796
• MyVariant Identifiers: chr17:g.41197714_41197717del (hg19) ; chr17:g.43045697_43045700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045697_43045700del , CM000679.2:g.43045697_43045700del	GRCh38
NC_000017.10:g.41197714_41197717del , CM000679.1:g.41197714_41197717del	GRCh37
NC_000017.9:g.38451240_38451243del	NCBI36
NG_005905.2:g.172284_172287del , LRG_292:g.172284_172287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5567_5570del	ENSP00000417241.2:p.Gln1856ProfsTer?
ENST00000470026.6:c.5570_5573del	ENSP00000419274.2:p.Gln1857ProfsTer?
ENST00000473961.6:c.5444_5447del	ENSP00000420201.2:p.Gln1815ProfsTer?
ENST00000476777.6:c.5564_5567del	ENSP00000417554.2:p.Gln1855ProfsTer?
ENST00000477152.6:c.5492_5495del	ENSP00000419988.2:p.Gln1831ProfsTer?
ENST00000478531.6:c.2258_2261del	ENSP00000420412.2:p.Gln753ProfsTer?
ENST00000489037.2:c.5492_5495del	ENSP00000420781.2:p.Gln1831ProfsTer?
ENST00000493919.6:c.2120_2123del	ENSP00000418819.2:p.Gln707ProfsTer?
ENST00000494123.6:c.5570_5573del	ENSP00000419103.2:p.Gln1857ProfsTer?
ENST00000497488.2:c.4682_4685del	ENSP00000418986.2:p.Gln1561ProfsTer?
ENST00000618469.2:c.5570_5573del	ENSP00000478114.2:p.Gln1857ProfsTer?
ENST00000634433.2:c.5447_5450del	ENSP00000489431.2:p.Gln1816ProfsTer?
ENST00000644379.2:c.5636_5639del	ENSP00000496570.2:p.Gln1879ProfsTer?
ENST00000644555.2:c.2120_2123del	ENSP00000494614.2:p.Gln707ProfsTer?
ENST00000652672.2:c.5429_5432del	ENSP00000498906.2:p.Gln1810ProfsTer?
ENST00000484087.6:c.2132_2135del	ENSP00000419481.2:p.Gln711ProfsTer?
ENST00000700081.1:n.1453_1456del
ENST00000700082.1:n.934_937del
ENST00000357654.9:c.5570_5573del MANE Select	ENSP00000350283.3:p.Gln1857ProfsTer?
ENST00000471181.7:c.5633_5636del	ENSP00000418960.2:p.Gln1878ProfsTer?
ENST00000644379.1:c.1957_1960del
ENST00000352993.7:c.2144_2147del	ENSP00000312236.5:p.Gln715ProfsTer?
ENST00000357654.7:c.5570_5573del	ENSP00000350283.3:p.Gln1857ProfsTer?
ENST00000461221.5:c.*5353_*5356del	ENSP00000418548.1:n.*5353_*5356del
ENST00000468300.5:c.*84_*87del	ENSP00000417148.1:n.*84_*87del
ENST00000471181.6:c.5633_5636del	ENSP00000418960.2:p.Gln1878ProfsTer?
ENST00000491747.6:c.2258_2261del	ENSP00000420705.2:p.Gln753ProfsTer?
ENST00000493795.5:c.5429_5432del	ENSP00000418775.1:p.Gln1810ProfsTer?
ENST00000586385.5:c.500_503del	ENSP00000465818.1:p.Gln167ProfsTer?
ENST00000591534.5:c.1043_1046del	ENSP00000467329.1:p.Gln348ProfsTer?
ENST00000591849.5:c.269_272del	ENSP00000465347.1:p.Gln90ProfsTer?
NM_007294.3:c.5570_5573del , LRG_292t1:c.5570_5573del	NP_009225.1:p.Gln1857ProfsTer?
NM_007297.3:c.5429_5432del	NP_009228.2:p.Gln1810ProfsTer?
NM_007298.3:c.2258_2261del	NP_009229.2:p.Gln753ProfsTer?
NM_007299.3:c.*84_*87del	NP_009230.2:n.*84_*87del
NM_007300.3:c.5633_5636del	NP_009231.2:p.Gln1878ProfsTer?
NR_027676.1:n.5706_5709del
NM_007294.4:c.5570_5573del MANE Select	NP_009225.1:p.Gln1857ProfsTer?
NM_007297.4:c.5429_5432del	NP_009228.2:p.Gln1810ProfsTer?
NM_007299.4:c.*84_*87del	NP_009230.2:n.*84_*87del
NM_007300.4:c.5633_5636del	NP_009231.2:p.Gln1878ProfsTer?
NR_027676.2:n.5747_5750del