Canonical Allele Identifier: CA10589905

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266205
• ClinVar RCV Id: RCV000257455
• dbSNP Id: rs886039985
• MyVariant Identifiers: chr17:g.41245596_41245599del (hg19) ; chr17:g.43093579_43093582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093580_43093583del , CM000679.2:g.43093580_43093583del	GRCh38
NC_000017.10:g.41245597_41245600del , CM000679.1:g.41245597_41245600del	GRCh37
NC_000017.9:g.38499123_38499126del	NCBI36
NG_005905.2:g.124402_124405del , LRG_292:g.124402_124405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2013_2016del
ENST00000461574.2:c.1949_1952del	ENSP00000417241.2:p.Ile650ArgfsTer?
ENST00000470026.6:c.1949_1952del	ENSP00000419274.2:p.Ile650ArgfsTer?
ENST00000473961.6:c.1823_1826del	ENSP00000420201.2:p.Ile608ArgfsTer?
ENST00000476777.6:c.1946_1949del	ENSP00000417554.2:p.Ile649ArgfsTer?
ENST00000477152.6:c.1871_1874del	ENSP00000419988.2:p.Ile624ArgfsTer?
ENST00000478531.6:c.784+1162_784+1165del	ENSP00000420412.2:n.784+1162_784+1165del
ENST00000489037.2:c.1871_1874del	ENSP00000420781.2:p.Ile624ArgfsTer?
ENST00000493919.6:c.646+1162_646+1165del	ENSP00000418819.2:n.646+1162_646+1165del
ENST00000494123.6:c.1949_1952del	ENSP00000419103.2:p.Ile650ArgfsTer?
ENST00000497488.2:c.1061_1064del	ENSP00000418986.2:p.Ile354ArgfsTer?
ENST00000618469.2:c.1949_1952del	ENSP00000478114.2:p.Ile650ArgfsTer?
ENST00000634433.2:c.1826_1829del	ENSP00000489431.2:p.Ile609ArgfsTer?
ENST00000644379.2:c.1949_1952del	ENSP00000496570.2:p.Ile650ArgfsTer?
ENST00000644555.2:c.646+1162_646+1165del	ENSP00000494614.2:n.646+1162_646+1165del
ENST00000652672.2:c.1808_1811del	ENSP00000498906.2:p.Ile603ArgfsTer?
ENST00000484087.6:c.664+1162_664+1165del	ENSP00000419481.2:n.664+1162_664+1165del
ENST00000700182.1:c.706+1162_706+1165del	ENSP00000514849.1:n.706+1162_706+1165del
ENST00000357654.9:c.1949_1952del MANE Select	ENSP00000350283.3:p.Ile650ArgfsTer?
ENST00000471181.7:c.1949_1952del	ENSP00000418960.2:p.Ile650ArgfsTer?
ENST00000352993.7:c.670+2264_670+2267del	ENSP00000312236.5:n.670+2264_670+2267del
ENST00000354071.7:c.1949_1952del	ENSP00000326002.7:p.Ile650ArgfsTer?
ENST00000357654.7:c.1949_1952del	ENSP00000350283.3:p.Ile650ArgfsTer?
ENST00000412061.3:c.1300_1303del
ENST00000461221.5:c.*1732_*1735del	ENSP00000418548.1:n.*1732_*1735del
ENST00000468300.5:c.787+1162_787+1165del	ENSP00000417148.1:n.787+1162_787+1165del
ENST00000471181.6:c.1949_1952del	ENSP00000418960.2:p.Ile650ArgfsTer?
ENST00000478531.5:c.784+1162_784+1165del	ENSP00000420412.1:n.784+1162_784+1165del
ENST00000484087.5:c.409+1162_409+1165del	ENSP00000419481.1:n.409+1162_409+1165del
ENST00000487825.5:c.412+1162_412+1165del	ENSP00000418212.1:n.412+1162_412+1165del
ENST00000491747.6:c.787+1162_787+1165del	ENSP00000420705.2:n.787+1162_787+1165del
ENST00000493795.5:c.1808_1811del	ENSP00000418775.1:p.Ile603ArgfsTer?
ENST00000493919.5:c.646+1162_646+1165del	ENSP00000418819.1:n.646+1162_646+1165del
ENST00000586385.5:c.5-29631_5-29628del	ENSP00000465818.1:n.5-29631_5-29628del
ENST00000591534.5:c.-43-19061_-43-19058del	ENSP00000467329.1:n.-43-19061_-43-19058del
ENST00000591849.5:c.-99+31689_-99+31692del	ENSP00000465347.1:n.-99+31689_-99+31692del
ENST00000634433.1:c.1826_1829del	ENSP00000489431.1:p.Ile609ArgfsTer?
NM_007294.3:c.1949_1952del , LRG_292t1:c.1949_1952del	NP_009225.1:p.Ile650ArgfsTer?
NM_007297.3:c.1808_1811del	NP_009228.2:p.Ile603ArgfsTer?
NM_007298.3:c.787+1162_787+1165del	NP_009229.2:n.787+1162_787+1165del
NM_007299.3:c.787+1162_787+1165del	NP_009230.2:n.787+1162_787+1165del
NM_007300.3:c.1949_1952del	NP_009231.2:p.Ile650ArgfsTer?
NR_027676.1:n.2085_2088del
NM_007294.4:c.1949_1952del MANE Select	NP_009225.1:p.Ile650ArgfsTer?
NM_007297.4:c.1808_1811del	NP_009228.2:p.Ile603ArgfsTer?
NM_007299.4:c.787+1162_787+1165del	NP_009230.2:n.787+1162_787+1165del
NM_007300.4:c.1949_1952del	NP_009231.2:p.Ile650ArgfsTer?
NR_027676.2:n.2126_2129del