Canonical Allele Identifier: CA002493

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55032
• ClinVar RCV Id: RCV000048362 ; RCV000112206 ; RCV000213665 ; RCV000508651
• dbSNP Id: rs80357918
• gnomAD v4: 17-43091660-ATT-A
• MyVariant Identifiers: chr17:g.41243678_41243679del (hg19) ; chr17:g.43091661_43091662del (hg38)
• PubMed: PMID:7606717 ; PMID:7837387 ; PMID:10486320 ; PMID:16267036 ; PMID:16912212 ; PMID:25248401 ; PMID:26026974 ; PMID:26187060

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091663_43091664del , CM000679.2:g.43091663_43091664del	GRCh38
NC_000017.10:g.41243680_41243681del , CM000679.1:g.41243680_41243681del	GRCh37
NC_000017.9:g.38497206_38497207del	NCBI36
NG_005905.2:g.126322_126323del , LRG_292:g.126322_126323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3933_3934del
ENST00000461574.2:c.3869_3870del	ENSP00000417241.2:p.Lys1290MetfsTer4
ENST00000470026.6:c.3869_3870del	ENSP00000419274.2:p.Lys1290MetfsTer4
ENST00000473961.6:c.3743_3744del	ENSP00000420201.2:p.Lys1248MetfsTer4
ENST00000476777.6:c.3866_3867del	ENSP00000417554.2:p.Lys1289MetfsTer4
ENST00000477152.6:c.3791_3792del	ENSP00000419988.2:p.Lys1264MetfsTer4
ENST00000478531.6:c.785-630_785-629del	ENSP00000420412.2:n.785-630_785-629del
ENST00000489037.2:c.3791_3792del	ENSP00000420781.2:p.Lys1264MetfsTer4
ENST00000493919.6:c.647-630_647-629del	ENSP00000418819.2:n.647-630_647-629del
ENST00000494123.6:c.3869_3870del	ENSP00000419103.2:p.Lys1290MetfsTer4
ENST00000497488.2:c.2981_2982del	ENSP00000418986.2:p.Lys994MetfsTer4
ENST00000618469.2:c.3869_3870del	ENSP00000478114.2:p.Lys1290MetfsTer4
ENST00000634433.2:c.3746_3747del	ENSP00000489431.2:p.Lys1249MetfsTer4
ENST00000644379.2:c.3869_3870del	ENSP00000496570.2:p.Lys1290MetfsTer4
ENST00000644555.2:c.647-630_647-629del	ENSP00000494614.2:n.647-630_647-629del
ENST00000652672.2:c.3728_3729del	ENSP00000498906.2:p.Lys1243MetfsTer4
ENST00000484087.6:c.665-630_665-629del	ENSP00000419481.2:n.665-630_665-629del
ENST00000700182.1:c.707-630_707-629del	ENSP00000514849.1:n.707-630_707-629del
ENST00000357654.9:c.3869_3870del MANE Select	ENSP00000350283.3:p.Lys1290MetfsTer4
ENST00000471181.7:c.3869_3870del	ENSP00000418960.2:p.Lys1290MetfsTer4
ENST00000644379.1:c.190_191del
ENST00000352993.7:c.671-630_671-629del	ENSP00000312236.5:n.671-630_671-629del
ENST00000354071.7:c.3869_3870del	ENSP00000326002.7:p.Lys1290MetfsTer4
ENST00000357654.7:c.3869_3870del	ENSP00000350283.3:p.Lys1290MetfsTer4
ENST00000461221.5:c.*3652_*3653del	ENSP00000418548.1:n.*3652_*3653del
ENST00000461574.1:c.163_164del
ENST00000468300.5:c.788-630_788-629del	ENSP00000417148.1:n.788-630_788-629del
ENST00000471181.6:c.3869_3870del	ENSP00000418960.2:p.Lys1290MetfsTer4
ENST00000478531.5:c.785-630_785-629del	ENSP00000420412.1:n.785-630_785-629del
ENST00000484087.5:c.410-630_410-629del	ENSP00000419481.1:n.410-630_410-629del
ENST00000487825.5:c.413-630_413-629del	ENSP00000418212.1:n.413-630_413-629del
ENST00000491747.6:c.788-630_788-629del	ENSP00000420705.2:n.788-630_788-629del
ENST00000493795.5:c.3728_3729del	ENSP00000418775.1:p.Lys1243MetfsTer4
ENST00000493919.5:c.647-630_647-629del	ENSP00000418819.1:n.647-630_647-629del
ENST00000586385.5:c.5-27711_5-27710del	ENSP00000465818.1:n.5-27711_5-27710del
ENST00000591534.5:c.-43-17141_-43-17140del	ENSP00000467329.1:n.-43-17141_-43-17140del
ENST00000591849.5:c.-99+33609_-99+33610del	ENSP00000465347.1:n.-99+33609_-99+33610del
NM_007294.3:c.3869_3870del , LRG_292t1:c.3869_3870del	NP_009225.1:p.Lys1290MetfsTer4
NM_007297.3:c.3728_3729del	NP_009228.2:p.Lys1243MetfsTer4
NM_007298.3:c.788-630_788-629del	NP_009229.2:n.788-630_788-629del
NM_007299.3:c.788-630_788-629del	NP_009230.2:n.788-630_788-629del
NM_007300.3:c.3869_3870del	NP_009231.2:p.Lys1290MetfsTer4
NR_027676.1:n.4005_4006del
NM_007294.4:c.3869_3870del MANE Select	NP_009225.1:p.Lys1290MetfsTer4
NM_007297.4:c.3728_3729del	NP_009228.2:p.Lys1243MetfsTer4
NM_007299.4:c.788-630_788-629del	NP_009230.2:n.788-630_788-629del
NM_007300.4:c.3869_3870del	NP_009231.2:p.Lys1290MetfsTer4
NR_027676.2:n.4046_4047del