Canonical Allele Identifier: CA1139665573

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 988532
• ClinVar RCV Id: RCV001269943
• dbSNP Id: rs2051931458

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063939_43063944del , CM000679.2:g.43063939_43063944del	GRCh38
NC_000017.10:g.41215956_41215961del , CM000679.1:g.41215956_41215961del	GRCh37
NC_000017.9:g.38469482_38469487del	NCBI36
NG_005905.2:g.154042_154047del , LRG_292:g.154042_154047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5081_5086del	ENSP00000417241.2:p.Phe1694_Val1695del
ENST00000470026.6:c.5084_5089del	ENSP00000419274.2:p.Phe1695_Val1696del
ENST00000473961.6:c.4958_4963del	ENSP00000420201.2:p.Phe1653_Val1654del
ENST00000476777.6:c.5078_5083del	ENSP00000417554.2:p.Phe1693_Val1694del
ENST00000477152.6:c.5006_5011del	ENSP00000419988.2:p.Phe1669_Val1670del
ENST00000478531.6:c.1772_1777del	ENSP00000420412.2:p.Phe591_Val592del
ENST00000489037.2:c.5006_5011del	ENSP00000420781.2:p.Phe1669_Val1670del
ENST00000493919.6:c.1634_1639del	ENSP00000418819.2:p.Phe545_Val546del
ENST00000494123.6:c.5084_5089del	ENSP00000419103.2:p.Phe1695_Val1696del
ENST00000497488.2:c.4196_4201del	ENSP00000418986.2:p.Phe1399_Val1400del
ENST00000618469.2:c.5084_5089del	ENSP00000478114.2:p.Phe1695_Val1696del
ENST00000634433.2:c.4961_4966del	ENSP00000489431.2:p.Phe1654_Val1655del
ENST00000644379.2:c.5150_5155del	ENSP00000496570.2:p.Phe1717_Val1718del
ENST00000644555.2:c.1634_1639del	ENSP00000494614.2:p.Phe545_Val546del
ENST00000652672.2:c.4943_4948del	ENSP00000498906.2:p.Phe1648_Val1649del
ENST00000484087.6:c.1646_1651del	ENSP00000419481.2:p.Phe549_Val550del
ENST00000357654.9:c.5084_5089del MANE Select	ENSP00000350283.3:p.Phe1695_Val1696del
ENST00000471181.7:c.5147_5152del	ENSP00000418960.2:p.Phe1716_Val1717del
ENST00000644379.1:c.1471_1476del
ENST00000352993.7:c.1658_1663del	ENSP00000312236.5:p.Phe553_Val554del
ENST00000357654.7:c.5084_5089del	ENSP00000350283.3:p.Phe1695_Val1696del
ENST00000461221.5:c.*4867_*4872del	ENSP00000418548.1:n.*4867_*4872del
ENST00000468300.5:c.1772_1777del	ENSP00000417148.1:p.Phe591_Val592del
ENST00000471181.6:c.5147_5152del	ENSP00000418960.2:p.Phe1716_Val1717del
ENST00000478531.5:c.1772_1777del	ENSP00000420412.1:p.Phe591_Val592del
ENST00000484087.5:c.1397_1402del	ENSP00000419481.1:p.Phe466_Val467del
ENST00000491747.6:c.1772_1777del	ENSP00000420705.2:p.Phe591_Val592del
ENST00000493795.5:c.4943_4948del	ENSP00000418775.1:p.Phe1648_Val1649del
ENST00000493919.5:c.1634_1639del	ENSP00000418819.1:p.Phe545_Val546del
ENST00000586385.5:c.14_19del	ENSP00000465818.1:p.Phe5_Val6del
ENST00000591534.5:c.557_562del	ENSP00000467329.1:p.Phe186_Val187del
ENST00000591849.5:c.-98-13752_-98-13747del	ENSP00000465347.1:n.-98-13752_-98-13747del
NM_007294.3:c.5084_5089del , LRG_292t1:c.5084_5089del	NP_009225.1:p.Phe1695_Val1696del
NM_007297.3:c.4943_4948del	NP_009228.2:p.Phe1648_Val1649del
NM_007298.3:c.1772_1777del	NP_009229.2:p.Phe591_Val592del
NM_007299.3:c.1772_1777del	NP_009230.2:p.Phe591_Val592del
NM_007300.3:c.5147_5152del	NP_009231.2:p.Phe1716_Val1717del
NR_027676.1:n.5220_5225del
NM_007294.4:c.5084_5089del MANE Select	NP_009225.1:p.Phe1695_Val1696del
NM_007297.4:c.4943_4948del	NP_009228.2:p.Phe1648_Val1649del
NM_007299.4:c.1772_1777del	NP_009230.2:p.Phe591_Val592del
NM_007300.4:c.5147_5152del	NP_009231.2:p.Phe1716_Val1717del
NR_027676.2:n.5261_5266del