Canonical Allele Identifier: CA002503

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55038
• ClinVar RCV Id: RCV000112208 ; RCV000236417 ; RCV001021370 ; RCV001236117
• dbSNP Id: rs80358339
• ExAC: 17:41243654 TGAA / T
• gnomAD v2: 17-41243654-TGAA-T
• gnomAD v4: 17-43091637-TGAA-T
• MyVariant Identifiers: chr17:g.41243655_41243657del (hg19) ; chr17:g.43091638_43091640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091641_43091643del , CM000679.2:g.43091641_43091643del	GRCh38
NC_000017.10:g.41243658_41243660del , CM000679.1:g.41243658_41243660del	GRCh37
NC_000017.9:g.38497184_38497186del	NCBI36
NG_005905.2:g.126344_126346del , LRG_292:g.126344_126346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3955_3957del
ENST00000461574.2:c.3891_3893del	ENSP00000417241.2:p.Ser1298del
ENST00000470026.6:c.3891_3893del	ENSP00000419274.2:p.Ser1298del
ENST00000473961.6:c.3765_3767del	ENSP00000420201.2:p.Ser1256del
ENST00000476777.6:c.3888_3890del	ENSP00000417554.2:p.Ser1297del
ENST00000477152.6:c.3813_3815del	ENSP00000419988.2:p.Ser1272del
ENST00000478531.6:c.785-608_785-606del	ENSP00000420412.2:n.785-608_785-606del
ENST00000489037.2:c.3813_3815del	ENSP00000420781.2:p.Ser1272del
ENST00000493919.6:c.647-608_647-606del	ENSP00000418819.2:n.647-608_647-606del
ENST00000494123.6:c.3891_3893del	ENSP00000419103.2:p.Ser1298del
ENST00000497488.2:c.3003_3005del	ENSP00000418986.2:p.Ser1002del
ENST00000618469.2:c.3891_3893del	ENSP00000478114.2:p.Ser1298del
ENST00000634433.2:c.3768_3770del	ENSP00000489431.2:p.Ser1257del
ENST00000644379.2:c.3891_3893del	ENSP00000496570.2:p.Ser1298del
ENST00000644555.2:c.647-608_647-606del	ENSP00000494614.2:n.647-608_647-606del
ENST00000652672.2:c.3750_3752del	ENSP00000498906.2:p.Ser1251del
ENST00000484087.6:c.665-608_665-606del	ENSP00000419481.2:n.665-608_665-606del
ENST00000700182.1:c.707-608_707-606del	ENSP00000514849.1:n.707-608_707-606del
ENST00000357654.9:c.3891_3893del MANE Select	ENSP00000350283.3:p.Ser1298del
ENST00000471181.7:c.3891_3893del	ENSP00000418960.2:p.Ser1298del
ENST00000644379.1:c.212_214del
ENST00000352993.7:c.671-608_671-606del	ENSP00000312236.5:n.671-608_671-606del
ENST00000354071.7:c.3891_3893del	ENSP00000326002.7:p.Ser1298del
ENST00000357654.7:c.3891_3893del	ENSP00000350283.3:p.Ser1298del
ENST00000461221.5:c.*3674_*3676del	ENSP00000418548.1:n.*3674_*3676del
ENST00000461574.1:c.185_187del
ENST00000468300.5:c.788-608_788-606del	ENSP00000417148.1:n.788-608_788-606del
ENST00000471181.6:c.3891_3893del	ENSP00000418960.2:p.Ser1298del
ENST00000478531.5:c.785-608_785-606del	ENSP00000420412.1:n.785-608_785-606del
ENST00000484087.5:c.410-608_410-606del	ENSP00000419481.1:n.410-608_410-606del
ENST00000487825.5:c.413-608_413-606del	ENSP00000418212.1:n.413-608_413-606del
ENST00000491747.6:c.788-608_788-606del	ENSP00000420705.2:n.788-608_788-606del
ENST00000493795.5:c.3750_3752del	ENSP00000418775.1:p.Ser1251del
ENST00000493919.5:c.647-608_647-606del	ENSP00000418819.1:n.647-608_647-606del
ENST00000586385.5:c.5-27689_5-27687del	ENSP00000465818.1:n.5-27689_5-27687del
ENST00000591534.5:c.-43-17119_-43-17117del	ENSP00000467329.1:n.-43-17119_-43-17117del
ENST00000591849.5:c.-99+33631_-99+33633del	ENSP00000465347.1:n.-99+33631_-99+33633del
NM_007294.3:c.3891_3893del , LRG_292t1:c.3891_3893del	NP_009225.1:p.Ser1298del
NM_007297.3:c.3750_3752del	NP_009228.2:p.Ser1251del
NM_007298.3:c.788-608_788-606del	NP_009229.2:n.788-608_788-606del
NM_007299.3:c.788-608_788-606del	NP_009230.2:n.788-608_788-606del
NM_007300.3:c.3891_3893del	NP_009231.2:p.Ser1298del
NR_027676.1:n.4027_4029del
NM_007294.4:c.3891_3893del MANE Select	NP_009225.1:p.Ser1298del
NM_007297.4:c.3750_3752del	NP_009228.2:p.Ser1251del
NM_007299.4:c.788-608_788-606del	NP_009230.2:n.788-608_788-606del
NM_007300.4:c.3891_3893del	NP_009231.2:p.Ser1298del
NR_027676.2:n.4068_4070del