Canonical Allele Identifier: CA10589626

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266518
• ClinVar RCV Id: RCV000257328 ; RCV000496254 ; RCV000758839
• dbSNP Id: rs886040265
• MyVariant Identifiers: chr17:g.41219657del (hg19) ; chr17:g.43067640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067640del , CM000679.2:g.43067640del	GRCh38
NC_000017.10:g.41219657del , CM000679.1:g.41219657del	GRCh37
NC_000017.9:g.38473183del	NCBI36
NG_005905.2:g.150344del , LRG_292:g.150344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5039del	ENSP00000417241.2:p.Thr1680MetfsTer9
ENST00000470026.6:c.5042del	ENSP00000419274.2:p.Thr1681MetfsTer9
ENST00000473961.6:c.4916del	ENSP00000420201.2:p.Thr1639MetfsTer9
ENST00000476777.6:c.5036del	ENSP00000417554.2:p.Thr1679MetfsTer9
ENST00000477152.6:c.4964del	ENSP00000419988.2:p.Thr1655MetfsTer9
ENST00000478531.6:c.1730del	ENSP00000420412.2:p.Thr577MetfsTer9
ENST00000489037.2:c.4964del	ENSP00000420781.2:p.Thr1655MetfsTer9
ENST00000493919.6:c.1592del	ENSP00000418819.2:p.Thr531MetfsTer9
ENST00000494123.6:c.5042del	ENSP00000419103.2:p.Thr1681MetfsTer9
ENST00000497488.2:c.4154del	ENSP00000418986.2:p.Thr1385MetfsTer9
ENST00000618469.2:c.5042del	ENSP00000478114.2:p.Thr1681MetfsTer9
ENST00000634433.2:c.4919del	ENSP00000489431.2:p.Thr1640MetfsTer9
ENST00000644379.2:c.5108del	ENSP00000496570.2:p.Thr1703MetfsTer9
ENST00000644555.2:c.1592del	ENSP00000494614.2:p.Thr531MetfsTer9
ENST00000652672.2:c.4901del	ENSP00000498906.2:p.Thr1634MetfsTer9
ENST00000484087.6:c.1604del	ENSP00000419481.2:p.Thr535MetfsTer9
ENST00000357654.9:c.5042del MANE Select	ENSP00000350283.3:p.Thr1681MetfsTer9
ENST00000471181.7:c.5105del	ENSP00000418960.2:p.Thr1702MetfsTer9
ENST00000644379.1:c.1429del
ENST00000352993.7:c.1616del	ENSP00000312236.5:p.Thr539MetfsTer9
ENST00000357654.7:c.5042del	ENSP00000350283.3:p.Thr1681MetfsTer9
ENST00000461221.5:c.*4825del	ENSP00000418548.1:n.*4825del
ENST00000468300.5:c.1730del	ENSP00000417148.1:p.Thr577MetfsTer9
ENST00000471181.6:c.5105del	ENSP00000418960.2:p.Thr1702MetfsTer9
ENST00000472490.1:n.195del
ENST00000478531.5:c.1730del	ENSP00000420412.1:p.Thr577MetfsTer9
ENST00000484087.5:c.1355del	ENSP00000419481.1:p.Thr452MetfsTer9
ENST00000491747.6:c.1730del	ENSP00000420705.2:p.Thr577MetfsTer9
ENST00000493795.5:c.4901del	ENSP00000418775.1:p.Thr1634MetfsTer9
ENST00000493919.5:c.1592del	ENSP00000418819.1:p.Thr531MetfsTer9
ENST00000586385.5:c.5-3689del	ENSP00000465818.1:n.5-3689del
ENST00000591534.5:c.515del	ENSP00000467329.1:p.Thr172MetfsTer9
ENST00000591849.5:c.-98-17450del	ENSP00000465347.1:n.-98-17450del
NM_007294.3:c.5042del , LRG_292t1:c.5042del	NP_009225.1:p.Thr1681MetfsTer9
NM_007297.3:c.4901del	NP_009228.2:p.Thr1634MetfsTer9
NM_007298.3:c.1730del	NP_009229.2:p.Thr577MetfsTer9
NM_007299.3:c.1730del	NP_009230.2:p.Thr577MetfsTer9
NM_007300.3:c.5105del	NP_009231.2:p.Thr1702MetfsTer9
NR_027676.1:n.5178del
NM_007294.4:c.5042del MANE Select	NP_009225.1:p.Thr1681MetfsTer9
NM_007297.4:c.4901del	NP_009228.2:p.Thr1634MetfsTer9
NM_007299.4:c.1730del	NP_009230.2:p.Thr577MetfsTer9
NM_007300.4:c.5105del	NP_009231.2:p.Thr1702MetfsTer9
NR_027676.2:n.5219del