Canonical Allele Identifier: CA891844427

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 578874
• ClinVar RCV Id: RCV000702008
• dbSNP Id: rs1567783654
• MyVariant Identifiers: chr17:g.41234583del (hg19) ; chr17:g.43082566del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082566del , CM000679.2:g.43082566del	GRCh38
NC_000017.10:g.41234583del , CM000679.1:g.41234583del	GRCh37
NC_000017.9:g.38488109del	NCBI36
NG_005905.2:g.135418del , LRG_292:g.135418del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4195del	ENSP00000417241.2:p.Thr1399ProfsTer6
ENST00000470026.6:c.4195del	ENSP00000419274.2:p.Thr1399ProfsTer6
ENST00000473961.6:c.4069del	ENSP00000420201.2:p.Thr1357ProfsTer6
ENST00000476777.6:c.4189del	ENSP00000417554.2:p.Thr1397ProfsTer6
ENST00000477152.6:c.4117del	ENSP00000419988.2:p.Thr1373ProfsTer6
ENST00000478531.6:c.883del	ENSP00000420412.2:p.Thr295ProfsTer6
ENST00000489037.2:c.4117del	ENSP00000420781.2:p.Thr1373ProfsTer6
ENST00000493919.6:c.745del	ENSP00000418819.2:p.Thr249ProfsTer6
ENST00000494123.6:c.4195del	ENSP00000419103.2:p.Thr1399ProfsTer6
ENST00000497488.2:c.3307del	ENSP00000418986.2:p.Thr1103ProfsTer6
ENST00000618469.2:c.4195del	ENSP00000478114.2:p.Thr1399ProfsTer6
ENST00000634433.2:c.4072del	ENSP00000489431.2:p.Thr1358ProfsTer6
ENST00000644379.2:c.4195del	ENSP00000496570.2:p.Thr1399ProfsTer6
ENST00000644555.2:c.745del	ENSP00000494614.2:p.Thr249ProfsTer6
ENST00000652672.2:c.4054del	ENSP00000498906.2:p.Thr1352ProfsTer6
ENST00000484087.6:c.760del	ENSP00000419481.2:p.Thr254ProfsTer6
ENST00000700182.1:c.805del	ENSP00000514849.1:p.Thr269ProfsTer6
ENST00000357654.9:c.4195del MANE Select	ENSP00000350283.3:p.Thr1399ProfsTer6
ENST00000471181.7:c.4195del	ENSP00000418960.2:p.Thr1399ProfsTer6
ENST00000644379.1:c.516del
ENST00000352993.7:c.769del	ENSP00000312236.5:p.Thr257ProfsTer6
ENST00000357654.7:c.4195del	ENSP00000350283.3:p.Thr1399ProfsTer6
ENST00000461221.5:c.*3978del	ENSP00000418548.1:n.*3978del
ENST00000461574.1:c.489del
ENST00000468300.5:c.886del	ENSP00000417148.1:p.Thr296ProfsTer6
ENST00000471181.6:c.4195del	ENSP00000418960.2:p.Thr1399ProfsTer6
ENST00000478531.5:c.883del	ENSP00000420412.1:p.Thr295ProfsTer6
ENST00000484087.5:c.508del	ENSP00000419481.1:p.Thr170ProfsTer6
ENST00000487825.5:c.511del	ENSP00000418212.1:p.Thr171ProfsTer6
ENST00000491747.6:c.886del	ENSP00000420705.2:p.Thr296ProfsTer6
ENST00000493795.5:c.4054del	ENSP00000418775.1:p.Thr1352ProfsTer6
ENST00000493919.5:c.745del	ENSP00000418819.1:p.Thr249ProfsTer6
ENST00000586385.5:c.5-18615del	ENSP00000465818.1:n.5-18615del
ENST00000591534.5:c.-43-8045del	ENSP00000467329.1:n.-43-8045del
ENST00000591849.5:c.-98-32376del	ENSP00000465347.1:n.-98-32376del
ENST00000621897.1:n.89del
NM_007294.3:c.4195del , LRG_292t1:c.4195del	NP_009225.1:p.Thr1399ProfsTer6
NM_007297.3:c.4054del	NP_009228.2:p.Thr1352ProfsTer6
NM_007298.3:c.886del	NP_009229.2:p.Thr296ProfsTer6
NM_007299.3:c.886del	NP_009230.2:p.Thr296ProfsTer6
NM_007300.3:c.4195del	NP_009231.2:p.Thr1399ProfsTer6
NR_027676.1:n.4331del
NM_007294.4:c.4195del MANE Select	NP_009225.1:p.Thr1399ProfsTer6
NM_007297.4:c.4054del	NP_009228.2:p.Thr1352ProfsTer6
NM_007299.4:c.886del	NP_009230.2:p.Thr296ProfsTer6
NM_007300.4:c.4195del	NP_009231.2:p.Thr1399ProfsTer6
NR_027676.2:n.4372del