Canonical Allele Identifier: CA001462

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54490
• ClinVar RCV Id: RCV000213548 ; RCV000211020 ; RCV002514237
• dbSNP Id: rs397508946
• MyVariant Identifiers: chr17:g.41245352_41245356del (hg19) ; chr17:g.43093335_43093339del (hg38)
• PubMed: PMID:22034289

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093337_43093341del , CM000679.2:g.43093337_43093341del	GRCh38
NC_000017.10:g.41245354_41245358del , CM000679.1:g.41245354_41245358del	GRCh37
NC_000017.9:g.38498880_38498884del	NCBI36
NG_005905.2:g.124645_124649del , LRG_292:g.124645_124649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2256_2260del
ENST00000461574.2:c.2192_2196del	ENSP00000417241.2:p.Lys731ArgfsTer7
ENST00000470026.6:c.2192_2196del	ENSP00000419274.2:p.Lys731ArgfsTer7
ENST00000473961.6:c.2066_2070del	ENSP00000420201.2:p.Lys689ArgfsTer7
ENST00000476777.6:c.2189_2193del	ENSP00000417554.2:p.Lys730ArgfsTer7
ENST00000477152.6:c.2114_2118del	ENSP00000419988.2:p.Lys705ArgfsTer7
ENST00000478531.6:c.784+1405_784+1409del	ENSP00000420412.2:n.784+1405_784+1409del
ENST00000489037.2:c.2114_2118del	ENSP00000420781.2:p.Lys705ArgfsTer7
ENST00000493919.6:c.646+1405_646+1409del	ENSP00000418819.2:n.646+1405_646+1409del
ENST00000494123.6:c.2192_2196del	ENSP00000419103.2:p.Lys731ArgfsTer7
ENST00000497488.2:c.1304_1308del	ENSP00000418986.2:p.Lys435ArgfsTer7
ENST00000618469.2:c.2192_2196del	ENSP00000478114.2:p.Lys731ArgfsTer7
ENST00000634433.2:c.2069_2073del	ENSP00000489431.2:p.Lys690ArgfsTer7
ENST00000644379.2:c.2192_2196del	ENSP00000496570.2:p.Lys731ArgfsTer7
ENST00000644555.2:c.646+1405_646+1409del	ENSP00000494614.2:n.646+1405_646+1409del
ENST00000652672.2:c.2051_2055del	ENSP00000498906.2:p.Lys684ArgfsTer7
ENST00000484087.6:c.664+1405_664+1409del	ENSP00000419481.2:n.664+1405_664+1409del
ENST00000700182.1:c.706+1405_706+1409del	ENSP00000514849.1:n.706+1405_706+1409del
ENST00000357654.9:c.2192_2196del MANE Select	ENSP00000350283.3:p.Lys731ArgfsTer7
ENST00000471181.7:c.2192_2196del	ENSP00000418960.2:p.Lys731ArgfsTer7
ENST00000352993.7:c.671-2307_671-2303del	ENSP00000312236.5:n.671-2307_671-2303del
ENST00000354071.7:c.2192_2196del	ENSP00000326002.7:p.Lys731ArgfsTer7
ENST00000357654.7:c.2192_2196del	ENSP00000350283.3:p.Lys731ArgfsTer7
ENST00000461221.5:c.*1975_*1979del	ENSP00000418548.1:n.*1975_*1979del
ENST00000468300.5:c.787+1405_787+1409del	ENSP00000417148.1:n.787+1405_787+1409del
ENST00000471181.6:c.2192_2196del	ENSP00000418960.2:p.Lys731ArgfsTer7
ENST00000478531.5:c.784+1405_784+1409del	ENSP00000420412.1:n.784+1405_784+1409del
ENST00000484087.5:c.409+1405_409+1409del	ENSP00000419481.1:n.409+1405_409+1409del
ENST00000487825.5:c.412+1405_412+1409del	ENSP00000418212.1:n.412+1405_412+1409del
ENST00000491747.6:c.787+1405_787+1409del	ENSP00000420705.2:n.787+1405_787+1409del
ENST00000493795.5:c.2051_2055del	ENSP00000418775.1:p.Lys684ArgfsTer7
ENST00000493919.5:c.646+1405_646+1409del	ENSP00000418819.1:n.646+1405_646+1409del
ENST00000586385.5:c.5-29388_5-29384del	ENSP00000465818.1:n.5-29388_5-29384del
ENST00000591534.5:c.-43-18818_-43-18814del	ENSP00000467329.1:n.-43-18818_-43-18814del
ENST00000591849.5:c.-99+31932_-99+31936del	ENSP00000465347.1:n.-99+31932_-99+31936del
ENST00000634433.1:c.2069_2073del	ENSP00000489431.1:p.Lys690ArgfsTer7
NM_007294.3:c.2192_2196del , LRG_292t1:c.2192_2196del	NP_009225.1:p.Lys731ArgfsTer7
NM_007297.3:c.2051_2055del	NP_009228.2:p.Lys684ArgfsTer7
NM_007298.3:c.787+1405_787+1409del	NP_009229.2:n.787+1405_787+1409del
NM_007299.3:c.787+1405_787+1409del	NP_009230.2:n.787+1405_787+1409del
NM_007300.3:c.2192_2196del	NP_009231.2:p.Lys731ArgfsTer7
NR_027676.1:n.2328_2332del
NM_007294.4:c.2192_2196del MANE Select	NP_009225.1:p.Lys731ArgfsTer7
NM_007297.4:c.2051_2055del	NP_009228.2:p.Lys684ArgfsTer7
NM_007299.4:c.787+1405_787+1409del	NP_009230.2:n.787+1405_787+1409del
NM_007300.4:c.2192_2196del	NP_009231.2:p.Lys731ArgfsTer7
NR_027676.2:n.2369_2373del