Canonical Allele Identifier: CA772198855

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1685581
• ClinVar RCV Id: RCV002249308
• dbSNP Id: rs1380657206
• MyVariant Identifiers: chr17:g.41245749_41245752del (hg19) ; chr17:g.43093732_43093735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093732_43093735del , CM000679.2:g.43093732_43093735del	GRCh38
NC_000017.10:g.41245749_41245752del , CM000679.1:g.41245749_41245752del	GRCh37
NC_000017.9:g.38499275_38499278del	NCBI36
NG_005905.2:g.124249_124252del , LRG_292:g.124249_124252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1860_1863del
ENST00000461574.2:c.1796_1799del	ENSP00000417241.2:p.Asn599ThrfsTer12
ENST00000470026.6:c.1796_1799del	ENSP00000419274.2:p.Asn599ThrfsTer12
ENST00000473961.6:c.1670_1673del	ENSP00000420201.2:p.Asn557ThrfsTer12
ENST00000476777.6:c.1793_1796del	ENSP00000417554.2:p.Asn598ThrfsTer12
ENST00000477152.6:c.1718_1721del	ENSP00000419988.2:p.Asn573ThrfsTer12
ENST00000478531.6:c.784+1009_784+1012del	ENSP00000420412.2:n.784+1009_784+1012del
ENST00000489037.2:c.1718_1721del	ENSP00000420781.2:p.Asn573ThrfsTer12
ENST00000493919.6:c.646+1009_646+1012del	ENSP00000418819.2:n.646+1009_646+1012del
ENST00000494123.6:c.1796_1799del	ENSP00000419103.2:p.Asn599ThrfsTer12
ENST00000497488.2:c.908_911del	ENSP00000418986.2:p.Asn303ThrfsTer12
ENST00000618469.2:c.1796_1799del	ENSP00000478114.2:p.Asn599ThrfsTer12
ENST00000634433.2:c.1673_1676del	ENSP00000489431.2:p.Asn558ThrfsTer12
ENST00000644379.2:c.1796_1799del	ENSP00000496570.2:p.Asn599ThrfsTer12
ENST00000644555.2:c.646+1009_646+1012del	ENSP00000494614.2:n.646+1009_646+1012del
ENST00000652672.2:c.1655_1658del	ENSP00000498906.2:p.Asn552ThrfsTer12
ENST00000484087.6:c.664+1009_664+1012del	ENSP00000419481.2:n.664+1009_664+1012del
ENST00000700182.1:c.706+1009_706+1012del	ENSP00000514849.1:n.706+1009_706+1012del
ENST00000357654.9:c.1796_1799del MANE Select	ENSP00000350283.3:p.Asn599ThrfsTer12
ENST00000471181.7:c.1796_1799del	ENSP00000418960.2:p.Asn599ThrfsTer12
ENST00000652672.1:c.1655_1658del	ENSP00000498906.1:p.Asn552ThrfsTer12
ENST00000352993.7:c.670+2111_670+2114del	ENSP00000312236.5:n.670+2111_670+2114del
ENST00000354071.7:c.1796_1799del	ENSP00000326002.7:p.Asn599ThrfsTer12
ENST00000357654.7:c.1796_1799del	ENSP00000350283.3:p.Asn599ThrfsTer12
ENST00000412061.3:c.1147_1150del
ENST00000461221.5:c.*1579_*1582del	ENSP00000418548.1:n.*1579_*1582del
ENST00000468300.5:c.787+1009_787+1012del	ENSP00000417148.1:n.787+1009_787+1012del
ENST00000470026.5:c.1796_1799del	ENSP00000419274.1:p.Asn599ThrfsTer12
ENST00000471181.6:c.1796_1799del	ENSP00000418960.2:p.Asn599ThrfsTer12
ENST00000477152.5:c.1718_1721del	ENSP00000419988.1:p.Asn573ThrfsTer12
ENST00000478531.5:c.784+1009_784+1012del	ENSP00000420412.1:n.784+1009_784+1012del
ENST00000484087.5:c.409+1009_409+1012del	ENSP00000419481.1:n.409+1009_409+1012del
ENST00000487825.5:c.412+1009_412+1012del	ENSP00000418212.1:n.412+1009_412+1012del
ENST00000491747.6:c.787+1009_787+1012del	ENSP00000420705.2:n.787+1009_787+1012del
ENST00000493795.5:c.1655_1658del	ENSP00000418775.1:p.Asn552ThrfsTer12
ENST00000493919.5:c.646+1009_646+1012del	ENSP00000418819.1:n.646+1009_646+1012del
ENST00000586385.5:c.5-29784_5-29781del	ENSP00000465818.1:n.5-29784_5-29781del
ENST00000591534.5:c.-43-19214_-43-19211del	ENSP00000467329.1:n.-43-19214_-43-19211de...
ENST00000591849.5:c.-99+31536_-99+31539del	ENSP00000465347.1:n.-99+31536_-99+31539de...
ENST00000634433.1:c.1673_1676del	ENSP00000489431.1:p.Asn558ThrfsTer12
NM_007294.3:c.1796_1799del , LRG_292t1:c.1796_1799del	NP_009225.1:p.Asn599ThrfsTer12
NM_007297.3:c.1655_1658del	NP_009228.2:p.Asn552ThrfsTer12
NM_007298.3:c.787+1009_787+1012del	NP_009229.2:n.787+1009_787+1012del
NM_007299.3:c.787+1009_787+1012del	NP_009230.2:n.787+1009_787+1012del
NM_007300.3:c.1796_1799del	NP_009231.2:p.Asn599ThrfsTer12
NR_027676.1:n.1932_1935del
NM_007294.4:c.1796_1799del MANE Select	NP_009225.1:p.Asn599ThrfsTer12
NM_007297.4:c.1655_1658del	NP_009228.2:p.Asn552ThrfsTer12
NM_007299.4:c.787+1009_787+1012del	NP_009230.2:n.787+1009_787+1012del
NM_007300.4:c.1796_1799del	NP_009231.2:p.Asn599ThrfsTer12
NR_027676.2:n.1973_1976del