Canonical Allele Identifier: CA001276

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142815
• ClinVar RCV Id: RCV000132241
• dbSNP Id: rs587782739
• COSMIC: COSM1479615 ; COSM5210395
• MyVariant Identifiers: chr17:g.41245615_41245617del (hg19) ; chr17:g.43093598_43093600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093601_43093603del , CM000679.2:g.43093601_43093603del	GRCh38
NC_000017.10:g.41245618_41245620del , CM000679.1:g.41245618_41245620del	GRCh37
NC_000017.9:g.38499144_38499146del	NCBI36
NG_005905.2:g.124384_124386del , LRG_292:g.124384_124386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1995_1997del
ENST00000461574.2:c.1931_1933del	ENSP00000417241.2:p.Cys644del
ENST00000470026.6:c.1931_1933del	ENSP00000419274.2:p.Cys644del
ENST00000473961.6:c.1805_1807del	ENSP00000420201.2:p.Cys602del
ENST00000476777.6:c.1928_1930del	ENSP00000417554.2:p.Cys643del
ENST00000477152.6:c.1853_1855del	ENSP00000419988.2:p.Cys618del
ENST00000478531.6:c.784+1144_784+1146del	ENSP00000420412.2:n.784+1144_784+1146del
ENST00000489037.2:c.1853_1855del	ENSP00000420781.2:p.Cys618del
ENST00000493919.6:c.646+1144_646+1146del	ENSP00000418819.2:n.646+1144_646+1146del
ENST00000494123.6:c.1931_1933del	ENSP00000419103.2:p.Cys644del
ENST00000497488.2:c.1043_1045del	ENSP00000418986.2:p.Cys348del
ENST00000618469.2:c.1931_1933del	ENSP00000478114.2:p.Cys644del
ENST00000634433.2:c.1808_1810del	ENSP00000489431.2:p.Cys603del
ENST00000644379.2:c.1931_1933del	ENSP00000496570.2:p.Cys644del
ENST00000644555.2:c.646+1144_646+1146del	ENSP00000494614.2:n.646+1144_646+1146del
ENST00000652672.2:c.1790_1792del	ENSP00000498906.2:p.Cys597del
ENST00000484087.6:c.664+1144_664+1146del	ENSP00000419481.2:n.664+1144_664+1146del
ENST00000700182.1:c.706+1144_706+1146del	ENSP00000514849.1:n.706+1144_706+1146del
ENST00000357654.9:c.1931_1933del MANE Select	ENSP00000350283.3:p.Cys644del
ENST00000471181.7:c.1931_1933del	ENSP00000418960.2:p.Cys644del
ENST00000652672.1:c.1790_1792del	ENSP00000498906.1:p.Cys597del
ENST00000352993.7:c.670+2246_670+2248del	ENSP00000312236.5:n.670+2246_670+2248del
ENST00000354071.7:c.1931_1933del	ENSP00000326002.7:p.Cys644del
ENST00000357654.7:c.1931_1933del	ENSP00000350283.3:p.Cys644del
ENST00000412061.3:c.1282_1284del
ENST00000461221.5:c.*1714_*1716del	ENSP00000418548.1:n.*1714_*1716del
ENST00000468300.5:c.787+1144_787+1146del	ENSP00000417148.1:n.787+1144_787+1146del
ENST00000470026.5:c.1931_1933del	ENSP00000419274.1:p.Cys644del
ENST00000471181.6:c.1931_1933del	ENSP00000418960.2:p.Cys644del
ENST00000477152.5:c.1853_1855del	ENSP00000419988.1:p.Cys618del
ENST00000478531.5:c.784+1144_784+1146del	ENSP00000420412.1:n.784+1144_784+1146del
ENST00000484087.5:c.409+1144_409+1146del	ENSP00000419481.1:n.409+1144_409+1146del
ENST00000487825.5:c.412+1144_412+1146del	ENSP00000418212.1:n.412+1144_412+1146del
ENST00000491747.6:c.787+1144_787+1146del	ENSP00000420705.2:n.787+1144_787+1146del
ENST00000493795.5:c.1790_1792del	ENSP00000418775.1:p.Cys597del
ENST00000493919.5:c.646+1144_646+1146del	ENSP00000418819.1:n.646+1144_646+1146del
ENST00000586385.5:c.5-29649_5-29647del	ENSP00000465818.1:n.5-29649_5-29647del
ENST00000591534.5:c.-43-19079_-43-19077del	ENSP00000467329.1:n.-43-19079_-43-19077del
ENST00000591849.5:c.-99+31671_-99+31673del	ENSP00000465347.1:n.-99+31671_-99+31673del
ENST00000634433.1:c.1808_1810del	ENSP00000489431.1:p.Cys603del
NM_007294.3:c.1931_1933del , LRG_292t1:c.1931_1933del	NP_009225.1:p.Cys644del
NM_007297.3:c.1790_1792del	NP_009228.2:p.Cys597del
NM_007298.3:c.787+1144_787+1146del	NP_009229.2:n.787+1144_787+1146del
NM_007299.3:c.787+1144_787+1146del	NP_009230.2:n.787+1144_787+1146del
NM_007300.3:c.1931_1933del	NP_009231.2:p.Cys644del
NR_027676.1:n.2067_2069del
NM_007294.4:c.1931_1933del MANE Select	NP_009225.1:p.Cys644del
NM_007297.4:c.1790_1792del	NP_009228.2:p.Cys597del
NM_007299.4:c.787+1144_787+1146del	NP_009230.2:n.787+1144_787+1146del
NM_007300.4:c.1931_1933del	NP_009231.2:p.Cys644del
NR_027676.2:n.2108_2110del