Canonical Allele Identifier: CA10589719

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091685_43091695del , CM000679.2:g.43091685_43091695del	GRCh38
NC_000017.10:g.41243702_41243712del , CM000679.1:g.41243702_41243712del	GRCh37
NC_000017.9:g.38497228_38497238del	NCBI36
NG_005905.2:g.126293_126303del , LRG_292:g.126293_126303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3904_3914del
ENST00000461574.2:c.3840_3850del	ENSP00000417241.2:p.Gln1281ProfsTer2
ENST00000470026.6:c.3840_3850del	ENSP00000419274.2:p.Gln1281ProfsTer2
ENST00000473961.6:c.3714_3724del	ENSP00000420201.2:p.Gln1239ProfsTer2
ENST00000476777.6:c.3837_3847del	ENSP00000417554.2:p.Gln1280ProfsTer2
ENST00000477152.6:c.3762_3772del	ENSP00000419988.2:p.Gln1255ProfsTer2
ENST00000478531.6:c.785-659_785-649del	ENSP00000420412.2:n.785-659_785-649del
ENST00000489037.2:c.3762_3772del	ENSP00000420781.2:p.Gln1255ProfsTer2
ENST00000493919.6:c.647-659_647-649del	ENSP00000418819.2:n.647-659_647-649del
ENST00000494123.6:c.3840_3850del	ENSP00000419103.2:p.Gln1281ProfsTer2
ENST00000497488.2:c.2952_2962del	ENSP00000418986.2:p.Gln985ProfsTer2
ENST00000618469.2:c.3840_3850del	ENSP00000478114.2:p.Gln1281ProfsTer2
ENST00000634433.2:c.3717_3727del	ENSP00000489431.2:p.Gln1240ProfsTer2
ENST00000644379.2:c.3840_3850del	ENSP00000496570.2:p.Gln1281ProfsTer2
ENST00000644555.2:c.647-659_647-649del	ENSP00000494614.2:n.647-659_647-649del
ENST00000652672.2:c.3699_3709del	ENSP00000498906.2:p.Gln1234ProfsTer2
ENST00000484087.6:c.665-659_665-649del	ENSP00000419481.2:n.665-659_665-649del
ENST00000700182.1:c.707-659_707-649del	ENSP00000514849.1:n.707-659_707-649del
ENST00000357654.9:c.3840_3850del MANE Select	ENSP00000350283.3:p.Gln1281ProfsTer2
ENST00000471181.7:c.3840_3850del	ENSP00000418960.2:p.Gln1281ProfsTer2
ENST00000644379.1:c.161_171del
ENST00000352993.7:c.671-659_671-649del	ENSP00000312236.5:n.671-659_671-649del
ENST00000354071.7:c.3840_3850del	ENSP00000326002.7:p.Gln1281ProfsTer2
ENST00000357654.7:c.3840_3850del	ENSP00000350283.3:p.Gln1281ProfsTer2
ENST00000461221.5:c.*3623_*3633del	ENSP00000418548.1:n.*3623_*3633del
ENST00000461574.1:c.134_144del
ENST00000468300.5:c.788-659_788-649del	ENSP00000417148.1:n.788-659_788-649del
ENST00000471181.6:c.3840_3850del	ENSP00000418960.2:p.Gln1281ProfsTer2
ENST00000478531.5:c.785-659_785-649del	ENSP00000420412.1:n.785-659_785-649del
ENST00000484087.5:c.410-659_410-649del	ENSP00000419481.1:n.410-659_410-649del
ENST00000487825.5:c.413-659_413-649del	ENSP00000418212.1:n.413-659_413-649del
ENST00000491747.6:c.788-659_788-649del	ENSP00000420705.2:n.788-659_788-649del
ENST00000493795.5:c.3699_3709del	ENSP00000418775.1:p.Gln1234ProfsTer2
ENST00000493919.5:c.647-659_647-649del	ENSP00000418819.1:n.647-659_647-649del
ENST00000586385.5:c.5-27740_5-27730del	ENSP00000465818.1:n.5-27740_5-27730del
ENST00000591534.5:c.-43-17170_-43-17160del	ENSP00000467329.1:n.-43-17170_-43-17160del
ENST00000591849.5:c.-99+33580_-99+33590del	ENSP00000465347.1:n.-99+33580_-99+33590del
NM_007294.3:c.3840_3850del , LRG_292t1:c.3840_3850del	NP_009225.1:p.Gln1281ProfsTer2
NM_007297.3:c.3699_3709del	NP_009228.2:p.Gln1234ProfsTer2
NM_007298.3:c.788-659_788-649del	NP_009229.2:n.788-659_788-649del
NM_007299.3:c.788-659_788-649del	NP_009230.2:n.788-659_788-649del
NM_007300.3:c.3840_3850del	NP_009231.2:p.Gln1281ProfsTer2
NR_027676.1:n.3976_3986del
NM_007294.4:c.3840_3850del MANE Select	NP_009225.1:p.Gln1281ProfsTer2
NM_007297.4:c.3699_3709del	NP_009228.2:p.Gln1234ProfsTer2
NM_007299.4:c.788-659_788-649del	NP_009230.2:n.788-659_788-649del
NM_007300.4:c.3840_3850del	NP_009231.2:p.Gln1281ProfsTer2
NR_027676.2:n.4017_4027del