Canonical Allele Identifier: CA10589680

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266458
• ClinVar RCV Id: RCV000256709
• dbSNP Id: rs886040215
• MyVariant Identifiers: chr17:g.41234571_41234572del (hg19) ; chr17:g.43082554_43082555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082555_43082556del , CM000679.2:g.43082555_43082556del	GRCh38
NC_000017.10:g.41234572_41234573del , CM000679.1:g.41234572_41234573del	GRCh37
NC_000017.9:g.38488098_38488099del	NCBI36
NG_005905.2:g.135429_135430del , LRG_292:g.135429_135430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4206_4207del	ENSP00000417241.2:p.His1402GlnfsTer11
ENST00000470026.6:c.4206_4207del	ENSP00000419274.2:p.His1402GlnfsTer11
ENST00000473961.6:c.4080_4081del	ENSP00000420201.2:p.His1360GlnfsTer11
ENST00000476777.6:c.4200_4201del	ENSP00000417554.2:p.His1400GlnfsTer11
ENST00000477152.6:c.4128_4129del	ENSP00000419988.2:p.His1376GlnfsTer11
ENST00000478531.6:c.894_895del	ENSP00000420412.2:p.His298GlnfsTer11
ENST00000489037.2:c.4128_4129del	ENSP00000420781.2:p.His1376GlnfsTer11
ENST00000493919.6:c.756_757del	ENSP00000418819.2:p.His252GlnfsTer11
ENST00000494123.6:c.4206_4207del	ENSP00000419103.2:p.His1402GlnfsTer11
ENST00000497488.2:c.3318_3319del	ENSP00000418986.2:p.His1106GlnfsTer11
ENST00000618469.2:c.4206_4207del	ENSP00000478114.2:p.His1402GlnfsTer11
ENST00000634433.2:c.4083_4084del	ENSP00000489431.2:p.His1361GlnfsTer11
ENST00000644379.2:c.4206_4207del	ENSP00000496570.2:p.His1402GlnfsTer11
ENST00000644555.2:c.756_757del	ENSP00000494614.2:p.His252GlnfsTer11
ENST00000652672.2:c.4065_4066del	ENSP00000498906.2:p.His1355GlnfsTer11
ENST00000484087.6:c.771_772del	ENSP00000419481.2:p.His257GlnfsTer11
ENST00000700182.1:c.816_817del	ENSP00000514849.1:p.His272GlnfsTer11
ENST00000357654.9:c.4206_4207del MANE Select	ENSP00000350283.3:p.His1402GlnfsTer11
ENST00000471181.7:c.4206_4207del	ENSP00000418960.2:p.His1402GlnfsTer11
ENST00000644379.1:c.527_528del
ENST00000352993.7:c.780_781del	ENSP00000312236.5:p.His260GlnfsTer11
ENST00000357654.7:c.4206_4207del	ENSP00000350283.3:p.His1402GlnfsTer11
ENST00000461221.5:c.*3989_*3990del	ENSP00000418548.1:n.*3989_*3990del
ENST00000461574.1:c.500_501del
ENST00000468300.5:c.897_898del	ENSP00000417148.1:p.His299GlnfsTer11
ENST00000471181.6:c.4206_4207del	ENSP00000418960.2:p.His1402GlnfsTer11
ENST00000478531.5:c.894_895del	ENSP00000420412.1:p.His298GlnfsTer11
ENST00000484087.5:c.519_520del	ENSP00000419481.1:p.His173GlnfsTer11
ENST00000487825.5:c.522_523del	ENSP00000418212.1:p.His174GlnfsTer11
ENST00000491747.6:c.897_898del	ENSP00000420705.2:p.His299GlnfsTer11
ENST00000493795.5:c.4065_4066del	ENSP00000418775.1:p.His1355GlnfsTer11
ENST00000493919.5:c.756_757del	ENSP00000418819.1:p.His252GlnfsTer11
ENST00000586385.5:c.5-18604_5-18603del	ENSP00000465818.1:n.5-18604_5-18603del
ENST00000591534.5:c.-43-8034_-43-8033del	ENSP00000467329.1:n.-43-8034_-43-8033del
ENST00000591849.5:c.-98-32365_-98-32364del	ENSP00000465347.1:n.-98-32365_-98-32364del
ENST00000621897.1:n.100_101del
NM_007294.3:c.4206_4207del , LRG_292t1:c.4206_4207del	NP_009225.1:p.His1402GlnfsTer11
NM_007297.3:c.4065_4066del	NP_009228.2:p.His1355GlnfsTer11
NM_007298.3:c.897_898del	NP_009229.2:p.His299GlnfsTer11
NM_007299.3:c.897_898del	NP_009230.2:p.His299GlnfsTer11
NM_007300.3:c.4206_4207del	NP_009231.2:p.His1402GlnfsTer11
NR_027676.1:n.4342_4343del
NM_007294.4:c.4206_4207del MANE Select	NP_009225.1:p.His1402GlnfsTer11
NM_007297.4:c.4065_4066del	NP_009228.2:p.His1355GlnfsTer11
NM_007299.4:c.897_898del	NP_009230.2:p.His299GlnfsTer11
NM_007300.4:c.4206_4207del	NP_009231.2:p.His1402GlnfsTer11
NR_027676.2:n.4383_4384del