Canonical Allele Identifier: CA658824723

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548238
• ClinVar RCV Id: RCV000661142
• dbSNP Id: rs1555578648
• MyVariant Identifiers: chr17:g.41215958_41215959insC (hg19) ; chr17:g.43063941_43063942insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063941_43063942insC , CM000679.2:g.43063941_43063942insC	GRCh38
NC_000017.10:g.41215958_41215959insC , CM000679.1:g.41215958_41215959insC	GRCh37
NC_000017.9:g.38469484_38469485insC	NCBI36
NG_005905.2:g.154042_154043insG , LRG_292:g.154042_154043insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5081_5082insG	ENSP00000417241.2:p.Phe1694LeufsTer4
ENST00000470026.6:c.5084_5085insG	ENSP00000419274.2:p.Phe1695LeufsTer4
ENST00000473961.6:c.4958_4959insG	ENSP00000420201.2:p.Phe1653LeufsTer4
ENST00000476777.6:c.5078_5079insG	ENSP00000417554.2:p.Phe1693LeufsTer4
ENST00000477152.6:c.5006_5007insG	ENSP00000419988.2:p.Phe1669LeufsTer4
ENST00000478531.6:c.1772_1773insG	ENSP00000420412.2:p.Phe591LeufsTer4
ENST00000489037.2:c.5006_5007insG	ENSP00000420781.2:p.Phe1669LeufsTer4
ENST00000493919.6:c.1634_1635insG	ENSP00000418819.2:p.Phe545LeufsTer4
ENST00000494123.6:c.5084_5085insG	ENSP00000419103.2:p.Phe1695LeufsTer4
ENST00000497488.2:c.4196_4197insG	ENSP00000418986.2:p.Phe1399LeufsTer4
ENST00000618469.2:c.5084_5085insG	ENSP00000478114.2:p.Phe1695LeufsTer4
ENST00000634433.2:c.4961_4962insG	ENSP00000489431.2:p.Phe1654LeufsTer4
ENST00000644379.2:c.5150_5151insG	ENSP00000496570.2:p.Phe1717LeufsTer4
ENST00000644555.2:c.1634_1635insG	ENSP00000494614.2:p.Phe545LeufsTer4
ENST00000652672.2:c.4943_4944insG	ENSP00000498906.2:p.Phe1648LeufsTer4
ENST00000484087.6:c.1646_1647insG	ENSP00000419481.2:p.Phe549LeufsTer4
ENST00000357654.9:c.5084_5085insG MANE Select	ENSP00000350283.3:p.Phe1695LeufsTer4
ENST00000471181.7:c.5147_5148insG	ENSP00000418960.2:p.Phe1716LeufsTer4
ENST00000644379.1:c.1471_1472insG
ENST00000352993.7:c.1658_1659insG	ENSP00000312236.5:p.Phe553LeufsTer4
ENST00000357654.7:c.5084_5085insG	ENSP00000350283.3:p.Phe1695LeufsTer4
ENST00000461221.5:c.*4867_*4868insG	ENSP00000418548.1:n.*4867_*4868insG
ENST00000468300.5:c.1772_1773insG	ENSP00000417148.1:p.Phe591LeufsTer4
ENST00000471181.6:c.5147_5148insG	ENSP00000418960.2:p.Phe1716LeufsTer4
ENST00000478531.5:c.1772_1773insG	ENSP00000420412.1:p.Phe591LeufsTer4
ENST00000484087.5:c.1397_1398insG	ENSP00000419481.1:p.Phe466LeufsTer4
ENST00000491747.6:c.1772_1773insG	ENSP00000420705.2:p.Phe591LeufsTer4
ENST00000493795.5:c.4943_4944insG	ENSP00000418775.1:p.Phe1648LeufsTer4
ENST00000493919.5:c.1634_1635insG	ENSP00000418819.1:p.Phe545LeufsTer4
ENST00000586385.5:c.14_15insG	ENSP00000465818.1:p.Phe5LeufsTer4
ENST00000591534.5:c.557_558insG	ENSP00000467329.1:p.Phe186LeufsTer4
ENST00000591849.5:c.-98-13752_-98-13751insG	ENSP00000465347.1:n.-98-13752_-98-13751insG
NM_007294.3:c.5084_5085insG , LRG_292t1:c.5084_5085insG	NP_009225.1:p.Phe1695LeufsTer4
NM_007297.3:c.4943_4944insG	NP_009228.2:p.Phe1648LeufsTer4
NM_007298.3:c.1772_1773insG	NP_009229.2:p.Phe591LeufsTer4
NM_007299.3:c.1772_1773insG	NP_009230.2:p.Phe591LeufsTer4
NM_007300.3:c.5147_5148insG	NP_009231.2:p.Phe1716LeufsTer4
NR_027676.1:n.5220_5221insG
NM_007294.4:c.5084_5085insG MANE Select	NP_009225.1:p.Phe1695LeufsTer4
NM_007297.4:c.4943_4944insG	NP_009228.2:p.Phe1648LeufsTer4
NM_007299.4:c.1772_1773insG	NP_009230.2:p.Phe591LeufsTer4
NM_007300.4:c.5147_5148insG	NP_009231.2:p.Phe1716LeufsTer4
NR_027676.2:n.5261_5262insG