Canonical Allele Identifier: CA001058

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54301
• ClinVar RCV Id: RCV000111651
• dbSNP Id: rs80357613
• MyVariant Identifiers: chr17:g.41245959_41245965del (hg19) ; chr17:g.43093942_43093948del (hg38)
• PubMed: PMID:9714446

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093944_43093950del , CM000679.2:g.43093944_43093950del	GRCh38
NC_000017.10:g.41245961_41245967del , CM000679.1:g.41245961_41245967del	GRCh37
NC_000017.9:g.38499487_38499493del	NCBI36
NG_005905.2:g.124036_124042del , LRG_292:g.124036_124042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1647_1653del
ENST00000461574.2:c.1583_1589del	ENSP00000417241.2:p.Thr528LysfsTer2
ENST00000470026.6:c.1583_1589del	ENSP00000419274.2:p.Thr528LysfsTer2
ENST00000473961.6:c.1457_1463del	ENSP00000420201.2:p.Thr486LysfsTer2
ENST00000476777.6:c.1580_1586del	ENSP00000417554.2:p.Thr527LysfsTer2
ENST00000477152.6:c.1505_1511del	ENSP00000419988.2:p.Thr502LysfsTer2
ENST00000478531.6:c.784+796_784+802del	ENSP00000420412.2:n.784+796_784+802del
ENST00000489037.2:c.1505_1511del	ENSP00000420781.2:p.Thr502LysfsTer2
ENST00000493919.6:c.646+796_646+802del	ENSP00000418819.2:n.646+796_646+802del
ENST00000494123.6:c.1583_1589del	ENSP00000419103.2:p.Thr528LysfsTer2
ENST00000497488.2:c.695_701del	ENSP00000418986.2:p.Thr232LysfsTer2
ENST00000618469.2:c.1583_1589del	ENSP00000478114.2:p.Thr528LysfsTer2
ENST00000634433.2:c.1460_1466del	ENSP00000489431.2:p.Thr487LysfsTer2
ENST00000644379.2:c.1583_1589del	ENSP00000496570.2:p.Thr528LysfsTer2
ENST00000644555.2:c.646+796_646+802del	ENSP00000494614.2:n.646+796_646+802del
ENST00000652672.2:c.1442_1448del	ENSP00000498906.2:p.Thr481LysfsTer2
ENST00000484087.6:c.664+796_664+802del	ENSP00000419481.2:n.664+796_664+802del
ENST00000700182.1:c.706+796_706+802del	ENSP00000514849.1:n.706+796_706+802del
ENST00000357654.9:c.1583_1589del MANE Select	ENSP00000350283.3:p.Thr528LysfsTer2
ENST00000471181.7:c.1583_1589del	ENSP00000418960.2:p.Thr528LysfsTer2
ENST00000652672.1:c.1442_1448del	ENSP00000498906.1:p.Thr481LysfsTer2
ENST00000352993.7:c.670+1898_670+1904del	ENSP00000312236.5:n.670+1898_670+1904del
ENST00000354071.7:c.1583_1589del	ENSP00000326002.7:p.Thr528LysfsTer2
ENST00000357654.7:c.1583_1589del	ENSP00000350283.3:p.Thr528LysfsTer2
ENST00000412061.3:c.934_940del
ENST00000461221.5:c.*1366_*1372del	ENSP00000418548.1:n.*1366_*1372del
ENST00000468300.5:c.787+796_787+802del	ENSP00000417148.1:n.787+796_787+802del
ENST00000470026.5:c.1583_1589del	ENSP00000419274.1:p.Thr528LysfsTer2
ENST00000471181.6:c.1583_1589del	ENSP00000418960.2:p.Thr528LysfsTer2
ENST00000477152.5:c.1505_1511del	ENSP00000419988.1:p.Thr502LysfsTer2
ENST00000478531.5:c.784+796_784+802del	ENSP00000420412.1:n.784+796_784+802del
ENST00000484087.5:c.409+796_409+802del	ENSP00000419481.1:n.409+796_409+802del
ENST00000487825.5:c.412+796_412+802del	ENSP00000418212.1:n.412+796_412+802del
ENST00000491747.6:c.787+796_787+802del	ENSP00000420705.2:n.787+796_787+802del
ENST00000493795.5:c.1442_1448del	ENSP00000418775.1:p.Thr481LysfsTer2
ENST00000493919.5:c.646+796_646+802del	ENSP00000418819.1:n.646+796_646+802del
ENST00000586385.5:c.5-29997_5-29991del	ENSP00000465818.1:n.5-29997_5-29991del
ENST00000591534.5:c.-43-19427_-43-19421del	ENSP00000467329.1:n.-43-19427_-43-19421de...
ENST00000591849.5:c.-99+31323_-99+31329del	ENSP00000465347.1:n.-99+31323_-99+31329de...
ENST00000634433.1:c.1460_1466del	ENSP00000489431.1:p.Thr487LysfsTer2
NM_007294.3:c.1583_1589del , LRG_292t1:c.1583_1589del	NP_009225.1:p.Thr528LysfsTer2
NM_007297.3:c.1442_1448del	NP_009228.2:p.Thr481LysfsTer2
NM_007298.3:c.787+796_787+802del	NP_009229.2:n.787+796_787+802del
NM_007299.3:c.787+796_787+802del	NP_009230.2:n.787+796_787+802del
NM_007300.3:c.1583_1589del	NP_009231.2:p.Thr528LysfsTer2
NR_027676.1:n.1719_1725del
NM_007294.4:c.1583_1589del MANE Select	NP_009225.1:p.Thr528LysfsTer2
NM_007297.4:c.1442_1448del	NP_009228.2:p.Thr481LysfsTer2
NM_007299.4:c.787+796_787+802del	NP_009230.2:n.787+796_787+802del
NM_007300.4:c.1583_1589del	NP_009231.2:p.Thr528LysfsTer2
NR_027676.2:n.1760_1766del