Canonical Allele Identifier: CA057671

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254402
• ClinVar RCV Id: RCV000241525
• dbSNP Id: rs773413634
• ExAC: 17:41245569 ACT / A
• gnomAD v2: 17-41245569-ACT-A
• MyVariant Identifiers: chr17:g.41245570_41245571del (hg19) ; chr17:g.43093553_43093554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093553_43093554del , CM000679.2:g.43093553_43093554del	GRCh38
NC_000017.10:g.41245570_41245571del , CM000679.1:g.41245570_41245571del	GRCh37
NC_000017.9:g.38499096_38499097del	NCBI36
NG_005905.2:g.124430_124431del , LRG_292:g.124430_124431del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2041_2042del
ENST00000461574.2:c.1977_1978del	ENSP00000417241.2:p.Val660GlnfsTer12
ENST00000470026.6:c.1977_1978del	ENSP00000419274.2:p.Val660GlnfsTer12
ENST00000473961.6:c.1851_1852del	ENSP00000420201.2:p.Val618GlnfsTer12
ENST00000476777.6:c.1974_1975del	ENSP00000417554.2:p.Val659GlnfsTer12
ENST00000477152.6:c.1899_1900del	ENSP00000419988.2:p.Val634GlnfsTer12
ENST00000478531.6:c.784+1190_784+1191del	ENSP00000420412.2:n.784+1190_784+1191del
ENST00000489037.2:c.1899_1900del	ENSP00000420781.2:p.Val634GlnfsTer12
ENST00000493919.6:c.646+1190_646+1191del	ENSP00000418819.2:n.646+1190_646+1191del
ENST00000494123.6:c.1977_1978del	ENSP00000419103.2:p.Val660GlnfsTer12
ENST00000497488.2:c.1089_1090del	ENSP00000418986.2:p.Val364GlnfsTer12
ENST00000618469.2:c.1977_1978del	ENSP00000478114.2:p.Val660GlnfsTer12
ENST00000634433.2:c.1854_1855del	ENSP00000489431.2:p.Val619GlnfsTer12
ENST00000644379.2:c.1977_1978del	ENSP00000496570.2:p.Val660GlnfsTer12
ENST00000644555.2:c.646+1190_646+1191del	ENSP00000494614.2:n.646+1190_646+1191del
ENST00000652672.2:c.1836_1837del	ENSP00000498906.2:p.Val613GlnfsTer12
ENST00000484087.6:c.664+1190_664+1191del	ENSP00000419481.2:n.664+1190_664+1191del
ENST00000700182.1:c.706+1190_706+1191del	ENSP00000514849.1:n.706+1190_706+1191del
ENST00000357654.9:c.1977_1978del MANE Select	ENSP00000350283.3:p.Val660GlnfsTer12
ENST00000471181.7:c.1977_1978del	ENSP00000418960.2:p.Val660GlnfsTer12
ENST00000352993.7:c.670+2292_670+2293del	ENSP00000312236.5:n.670+2292_670+2293del
ENST00000354071.7:c.1977_1978del	ENSP00000326002.7:p.Val660GlnfsTer12
ENST00000357654.7:c.1977_1978del	ENSP00000350283.3:p.Val660GlnfsTer12
ENST00000461221.5:c.*1760_*1761del	ENSP00000418548.1:n.*1760_*1761del
ENST00000468300.5:c.787+1190_787+1191del	ENSP00000417148.1:n.787+1190_787+1191del
ENST00000471181.6:c.1977_1978del	ENSP00000418960.2:p.Val660GlnfsTer12
ENST00000478531.5:c.784+1190_784+1191del	ENSP00000420412.1:n.784+1190_784+1191del
ENST00000484087.5:c.409+1190_409+1191del	ENSP00000419481.1:n.409+1190_409+1191del
ENST00000487825.5:c.412+1190_412+1191del	ENSP00000418212.1:n.412+1190_412+1191del
ENST00000491747.6:c.787+1190_787+1191del	ENSP00000420705.2:n.787+1190_787+1191del
ENST00000493795.5:c.1836_1837del	ENSP00000418775.1:p.Val613GlnfsTer12
ENST00000493919.5:c.646+1190_646+1191del	ENSP00000418819.1:n.646+1190_646+1191del
ENST00000586385.5:c.5-29603_5-29602del	ENSP00000465818.1:n.5-29603_5-29602del
ENST00000591534.5:c.-43-19033_-43-19032del	ENSP00000467329.1:n.-43-19033_-43-19032del
ENST00000591849.5:c.-99+31717_-99+31718del	ENSP00000465347.1:n.-99+31717_-99+31718del
ENST00000634433.1:c.1854_1855del	ENSP00000489431.1:p.Val619GlnfsTer12
NM_007294.3:c.1977_1978del , LRG_292t1:c.1977_1978del	NP_009225.1:p.Val660GlnfsTer12
NM_007297.3:c.1836_1837del	NP_009228.2:p.Val613GlnfsTer12
NM_007298.3:c.787+1190_787+1191del	NP_009229.2:n.787+1190_787+1191del
NM_007299.3:c.787+1190_787+1191del	NP_009230.2:n.787+1190_787+1191del
NM_007300.3:c.1977_1978del	NP_009231.2:p.Val660GlnfsTer12
NR_027676.1:n.2113_2114del
NM_007294.4:c.1977_1978del MANE Select	NP_009225.1:p.Val660GlnfsTer12
NM_007297.4:c.1836_1837del	NP_009228.2:p.Val613GlnfsTer12
NM_007299.4:c.787+1190_787+1191del	NP_009230.2:n.787+1190_787+1191del
NM_007300.4:c.1977_1978del	NP_009231.2:p.Val660GlnfsTer12
NR_027676.2:n.2154_2155del