Canonical Allele Identifier: CA10586669

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254375
• ClinVar RCV Id: RCV000241262
• dbSNP Id: rs886037974
• MyVariant Identifiers: chr17:g.41251874_41251875del (hg19) ; chr17:g.43099857_43099858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43099857_43099858del , CM000679.2:g.43099857_43099858del	GRCh38
NC_000017.10:g.41251874_41251875del , CM000679.1:g.41251874_41251875del	GRCh37
NC_000017.9:g.38505400_38505401del	NCBI36
NG_005905.2:g.118126_118127del , LRG_292:g.118126_118127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.528_529del
ENST00000461574.2:c.464_465del	ENSP00000417241.2:p.Gln155ProfsTer3
ENST00000470026.6:c.464_465del	ENSP00000419274.2:p.Gln155ProfsTer3
ENST00000473961.6:c.461_462del	ENSP00000420201.2:p.Gln154ProfsTer3
ENST00000476777.6:c.461_462del	ENSP00000417554.2:p.Gln154ProfsTer3
ENST00000477152.6:c.386_387del	ENSP00000419988.2:p.Gln129ProfsTer3
ENST00000478531.6:c.461_462del	ENSP00000420412.2:p.Gln154ProfsTer3
ENST00000489037.2:c.386_387del	ENSP00000420781.2:p.Gln129ProfsTer3
ENST00000493919.6:c.323_324del	ENSP00000418819.2:p.Gln108ProfsTer3
ENST00000494123.6:c.464_465del	ENSP00000419103.2:p.Gln155ProfsTer3
ENST00000497488.2:c.-218-4998_-218-4997del	ENSP00000418986.2:n.-218-4998_-218-4997del
ENST00000618469.2:c.464_465del	ENSP00000478114.2:p.Gln155ProfsTer3
ENST00000634433.2:c.464_465del	ENSP00000489431.2:p.Gln155ProfsTer3
ENST00000644379.2:c.464_465del	ENSP00000496570.2:p.Gln155ProfsTer3
ENST00000644555.2:c.323_324del	ENSP00000494614.2:p.Gln108ProfsTer3
ENST00000652672.2:c.323_324del	ENSP00000498906.2:p.Gln108ProfsTer3
ENST00000484087.6:c.464_465del	ENSP00000419481.2:p.Gln155ProfsTer3
ENST00000700182.1:c.383_384del	ENSP00000514849.1:p.Gln128ProfsTer3
ENST00000700183.1:c.*378_*379del	ENSP00000514850.1:n.*378_*379del
ENST00000700184.1:n.704_705del
ENST00000357654.9:c.464_465del MANE Select	ENSP00000350283.3:p.Gln155ProfsTer3
ENST00000471181.7:c.464_465del	ENSP00000418960.2:p.Gln155ProfsTer3
ENST00000642945.1:c.*338_*339del	ENSP00000495897.1:n.*338_*339del
ENST00000652672.1:c.323_324del	ENSP00000498906.1:p.Gln108ProfsTer3
ENST00000352993.7:c.464_465del	ENSP00000312236.5:p.Gln155ProfsTer3
ENST00000354071.7:c.464_465del	ENSP00000326002.7:p.Gln155ProfsTer3
ENST00000357654.7:c.464_465del	ENSP00000350283.3:p.Gln155ProfsTer3
ENST00000461221.5:c.*247_*248del	ENSP00000418548.1:n.*247_*248del
ENST00000461798.5:c.*250_*251del	ENSP00000417988.1:n.*250_*251del
ENST00000468300.5:c.464_465del	ENSP00000417148.1:p.Gln155ProfsTer3
ENST00000470026.5:c.464_465del	ENSP00000419274.1:p.Gln155ProfsTer3
ENST00000471181.6:c.464_465del	ENSP00000418960.2:p.Gln155ProfsTer3
ENST00000473961.5:c.184_185del
ENST00000476777.5:c.461_462del	ENSP00000417554.1:p.Gln154ProfsTer3
ENST00000477152.5:c.386_387del	ENSP00000419988.1:p.Gln129ProfsTer3
ENST00000478531.5:c.461_462del	ENSP00000420412.1:p.Gln154ProfsTer3
ENST00000484087.5:c.209_210del	ENSP00000419481.1:p.Gln70ProfsTer3
ENST00000487825.5:c.212_213del	ENSP00000418212.1:p.Gln71ProfsTer3
ENST00000491747.6:c.464_465del	ENSP00000420705.2:p.Gln155ProfsTer3
ENST00000492859.5:c.*400_*401del	ENSP00000420253.1:n.*400_*401del
ENST00000493795.5:c.323_324del	ENSP00000418775.1:p.Gln108ProfsTer3
ENST00000493919.5:c.323_324del	ENSP00000418819.1:p.Gln108ProfsTer3
ENST00000494123.5:c.464_465del	ENSP00000419103.1:p.Gln155ProfsTer3
ENST00000497488.1:c.-218-4998_-218-4997del	ENSP00000418986.1:n.-218-4998_-218-4997del
ENST00000586385.5:c.4+25324_4+25325del	ENSP00000465818.1:n.4+25324_4+25325del
ENST00000591534.5:c.-43-25337_-43-25336del	ENSP00000467329.1:n.-43-25337_-43-25336del
ENST00000591849.5:c.-99+25413_-99+25414del	ENSP00000465347.1:n.-99+25413_-99+25414del
ENST00000634433.1:c.464_465del	ENSP00000489431.1:p.Gln155ProfsTer3
NM_007294.3:c.464_465del , LRG_292t1:c.464_465del	NP_009225.1:p.Gln155ProfsTer3
NM_007297.3:c.323_324del	NP_009228.2:p.Gln108ProfsTer3
NM_007298.3:c.464_465del	NP_009229.2:p.Gln155ProfsTer3
NM_007299.3:c.464_465del	NP_009230.2:p.Gln155ProfsTer3
NM_007300.3:c.464_465del	NP_009231.2:p.Gln155ProfsTer3
NR_027676.1:n.600_601del
NM_007294.4:c.464_465del MANE Select	NP_009225.1:p.Gln155ProfsTer3
NM_007297.4:c.323_324del	NP_009228.2:p.Gln108ProfsTer3
NM_007299.4:c.464_465del	NP_009230.2:p.Gln155ProfsTer3
NM_007300.4:c.464_465del	NP_009231.2:p.Gln155ProfsTer3
NR_027676.2:n.641_642del