Canonical Allele Identifier: CA10589708

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266423
• ClinVar RCV Id: RCV000256639 ; RCV000567607 ; RCV001855024
• dbSNP Id: rs886040181
• MyVariant Identifiers: chr17:g.41243577_41243580del (hg19) ; chr17:g.43091560_43091563del (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091560_43091563del , CM000679.2:g.43091560_43091563del	GRCh38
NC_000017.10:g.41243577_41243580del , CM000679.1:g.41243577_41243580del	GRCh37
NC_000017.9:g.38497103_38497106del	NCBI36
NG_005905.2:g.126421_126424del , LRG_292:g.126421_126424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4032_4035del
ENST00000461574.2:c.3968_3971del	ENSP00000417241.2:p.Gln1323ArgfsTer12
ENST00000470026.6:c.3968_3971del	ENSP00000419274.2:p.Gln1323ArgfsTer12
ENST00000473961.6:c.3842_3845del	ENSP00000420201.2:p.Gln1281ArgfsTer12
ENST00000476777.6:c.3965_3968del	ENSP00000417554.2:p.Gln1322ArgfsTer12
ENST00000477152.6:c.3890_3893del	ENSP00000419988.2:p.Gln1297ArgfsTer12
ENST00000478531.6:c.785-531_785-528del	ENSP00000420412.2:n.785-531_785-528del
ENST00000489037.2:c.3890_3893del	ENSP00000420781.2:p.Gln1297ArgfsTer12
ENST00000493919.6:c.647-531_647-528del	ENSP00000418819.2:n.647-531_647-528del
ENST00000494123.6:c.3968_3971del	ENSP00000419103.2:p.Gln1323ArgfsTer12
ENST00000497488.2:c.3080_3083del	ENSP00000418986.2:p.Gln1027ArgfsTer12
ENST00000618469.2:c.3968_3971del	ENSP00000478114.2:p.Gln1323ArgfsTer12
ENST00000634433.2:c.3845_3848del	ENSP00000489431.2:p.Gln1282ArgfsTer12
ENST00000644379.2:c.3968_3971del	ENSP00000496570.2:p.Gln1323ArgfsTer12
ENST00000644555.2:c.647-531_647-528del	ENSP00000494614.2:n.647-531_647-528del
ENST00000652672.2:c.3827_3830del	ENSP00000498906.2:p.Gln1276ArgfsTer12
ENST00000484087.6:c.665-531_665-528del	ENSP00000419481.2:n.665-531_665-528del
ENST00000700182.1:c.707-531_707-528del	ENSP00000514849.1:n.707-531_707-528del
ENST00000357654.9:c.3968_3971del MANE Select	ENSP00000350283.3:p.Gln1323ArgfsTer12
ENST00000471181.7:c.3968_3971del	ENSP00000418960.2:p.Gln1323ArgfsTer12
ENST00000644379.1:c.289_292del
ENST00000352993.7:c.671-531_671-528del	ENSP00000312236.5:n.671-531_671-528del
ENST00000354071.7:c.3968_3971del	ENSP00000326002.7:p.Gln1323ArgfsTer12
ENST00000357654.7:c.3968_3971del	ENSP00000350283.3:p.Gln1323ArgfsTer12
ENST00000461221.5:c.*3751_*3754del	ENSP00000418548.1:n.*3751_*3754del
ENST00000461574.1:c.262_265del
ENST00000468300.5:c.788-531_788-528del	ENSP00000417148.1:n.788-531_788-528del
ENST00000471181.6:c.3968_3971del	ENSP00000418960.2:p.Gln1323ArgfsTer12
ENST00000478531.5:c.785-531_785-528del	ENSP00000420412.1:n.785-531_785-528del
ENST00000484087.5:c.410-531_410-528del	ENSP00000419481.1:n.410-531_410-528del
ENST00000487825.5:c.413-531_413-528del	ENSP00000418212.1:n.413-531_413-528del
ENST00000491747.6:c.788-531_788-528del	ENSP00000420705.2:n.788-531_788-528del
ENST00000493795.5:c.3827_3830del	ENSP00000418775.1:p.Gln1276ArgfsTer12
ENST00000493919.5:c.647-531_647-528del	ENSP00000418819.1:n.647-531_647-528del
ENST00000586385.5:c.5-27612_5-27609del	ENSP00000465818.1:n.5-27612_5-27609del
ENST00000591534.5:c.-43-17042_-43-17039del	ENSP00000467329.1:n.-43-17042_-43-17039del
ENST00000591849.5:c.-99+33708_-99+33711del	ENSP00000465347.1:n.-99+33708_-99+33711del
NM_007294.3:c.3968_3971del , LRG_292t1:c.3968_3971del	NP_009225.1:p.Gln1323ArgfsTer12
NM_007297.3:c.3827_3830del	NP_009228.2:p.Gln1276ArgfsTer12
NM_007298.3:c.788-531_788-528del	NP_009229.2:n.788-531_788-528del
NM_007299.3:c.788-531_788-528del	NP_009230.2:n.788-531_788-528del
NM_007300.3:c.3968_3971del	NP_009231.2:p.Gln1323ArgfsTer12
NR_027676.1:n.4104_4107del
NM_007294.4:c.3968_3971del MANE Select	NP_009225.1:p.Gln1323ArgfsTer12
NM_007297.4:c.3827_3830del	NP_009228.2:p.Gln1276ArgfsTer12
NM_007299.4:c.788-531_788-528del	NP_009230.2:n.788-531_788-528del
NM_007300.4:c.3968_3971del	NP_009231.2:p.Gln1323ArgfsTer12
NR_027676.2:n.4145_4148del