Canonical Allele Identifier: CA2499224396

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1070948
• ClinVar RCV Id: RCV001383280
• dbSNP Id: rs587782392

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071116del , CM000679.2:g.43071116del	GRCh38
NC_000017.10:g.41223133del , CM000679.1:g.41223133del	GRCh37
NC_000017.9:g.38476659del	NCBI36
NG_005905.2:g.146869del , LRG_292:g.146869del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4796del	ENSP00000417241.2:p.Leu1599Ter
ENST00000470026.6:c.4799del	ENSP00000419274.2:p.Leu1600Ter
ENST00000473961.6:c.4673del	ENSP00000420201.2:p.Leu1558Ter
ENST00000476777.6:c.4793del	ENSP00000417554.2:p.Leu1598Ter
ENST00000477152.6:c.4721del	ENSP00000419988.2:p.Leu1574Ter
ENST00000478531.6:c.1487del	ENSP00000420412.2:p.Leu496Ter
ENST00000489037.2:c.4721del	ENSP00000420781.2:p.Leu1574Ter
ENST00000493919.6:c.1349del	ENSP00000418819.2:p.Leu450Ter
ENST00000494123.6:c.4799del	ENSP00000419103.2:p.Leu1600Ter
ENST00000497488.2:c.3911del	ENSP00000418986.2:p.Leu1304Ter
ENST00000618469.2:c.4799del	ENSP00000478114.2:p.Leu1600Ter
ENST00000634433.2:c.4676del	ENSP00000489431.2:p.Leu1559Ter
ENST00000644379.2:c.4865del	ENSP00000496570.2:p.Leu1622Ter
ENST00000644555.2:c.1349del	ENSP00000494614.2:p.Leu450Ter
ENST00000652672.2:c.4658del	ENSP00000498906.2:p.Leu1553Ter
ENST00000484087.6:c.1361del	ENSP00000419481.2:p.Leu454Ter
ENST00000700182.1:c.1406del	ENSP00000514849.1:p.Leu469Ter
ENST00000357654.9:c.4799del MANE Select	ENSP00000350283.3:p.Leu1600Ter
ENST00000471181.7:c.4862del	ENSP00000418960.2:p.Leu1621Ter
ENST00000644379.1:c.1186del
ENST00000352993.7:c.1373del	ENSP00000312236.5:p.Leu458Ter
ENST00000357654.7:c.4799del	ENSP00000350283.3:p.Leu1600Ter
ENST00000461221.5:c.*4582del	ENSP00000418548.1:n.*4582del
ENST00000468300.5:c.1487del	ENSP00000417148.1:p.Leu496Ter
ENST00000471181.6:c.4862del	ENSP00000418960.2:p.Leu1621Ter
ENST00000478531.5:c.1487del	ENSP00000420412.1:p.Leu496Ter
ENST00000484087.5:c.1112del	ENSP00000419481.1:p.Leu371Ter
ENST00000491747.6:c.1487del	ENSP00000420705.2:p.Leu496Ter
ENST00000493795.5:c.4658del	ENSP00000418775.1:p.Leu1553Ter
ENST00000493919.5:c.1349del	ENSP00000418819.1:p.Leu450Ter
ENST00000586385.5:c.5-7164del	ENSP00000465818.1:n.5-7164del
ENST00000591534.5:c.272del	ENSP00000467329.1:p.Leu91Ter
ENST00000591849.5:c.-98-20925del	ENSP00000465347.1:n.-98-20925del
NM_007294.3:c.4799del , LRG_292t1:c.4799del	NP_009225.1:p.Leu1600Ter
NM_007297.3:c.4658del	NP_009228.2:p.Leu1553Ter
NM_007298.3:c.1487del	NP_009229.2:p.Leu496Ter
NM_007299.3:c.1487del	NP_009230.2:p.Leu496Ter
NM_007300.3:c.4862del	NP_009231.2:p.Leu1621Ter
NR_027676.1:n.4935del
NM_007294.4:c.4799del MANE Select	NP_009225.1:p.Leu1600Ter
NM_007297.4:c.4658del	NP_009228.2:p.Leu1553Ter
NM_007299.4:c.1487del	NP_009230.2:p.Leu496Ter
NM_007300.4:c.4862del	NP_009231.2:p.Leu1621Ter
NR_027676.2:n.4976del