Canonical Allele Identifier: CA2499224391

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071034_43071041del , CM000679.2:g.43071034_43071041del	GRCh38
NC_000017.10:g.41223051_41223058del , CM000679.1:g.41223051_41223058del	GRCh37
NC_000017.9:g.38476577_38476584del	NCBI36
NG_005905.2:g.146943_146950del , LRG_292:g.146943_146950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4870_4877del	ENSP00000417241.2:p.Tyr1624AsnfsTer?
ENST00000470026.6:c.4873_4880del	ENSP00000419274.2:p.Tyr1625AsnfsTer?
ENST00000473961.6:c.4747_4754del	ENSP00000420201.2:p.Tyr1583AsnfsTer?
ENST00000476777.6:c.4867_4874del	ENSP00000417554.2:p.Tyr1623AsnfsTer?
ENST00000477152.6:c.4795_4802del	ENSP00000419988.2:p.Tyr1599AsnfsTer?
ENST00000478531.6:c.1561_1568del	ENSP00000420412.2:p.Tyr521AsnfsTer?
ENST00000489037.2:c.4795_4802del	ENSP00000420781.2:p.Tyr1599AsnfsTer?
ENST00000493919.6:c.1423_1430del	ENSP00000418819.2:p.Tyr475AsnfsTer?
ENST00000494123.6:c.4873_4880del	ENSP00000419103.2:p.Tyr1625AsnfsTer?
ENST00000497488.2:c.3985_3992del	ENSP00000418986.2:p.Tyr1329AsnfsTer?
ENST00000618469.2:c.4873_4880del	ENSP00000478114.2:p.Tyr1625AsnfsTer?
ENST00000634433.2:c.4750_4757del	ENSP00000489431.2:p.Tyr1584AsnfsTer?
ENST00000644379.2:c.4939_4946del	ENSP00000496570.2:p.Tyr1647AsnfsTer?
ENST00000644555.2:c.1423_1430del	ENSP00000494614.2:p.Tyr475AsnfsTer?
ENST00000652672.2:c.4732_4739del	ENSP00000498906.2:p.Tyr1578AsnfsTer?
ENST00000484087.6:c.1435_1442del	ENSP00000419481.2:p.Tyr479AsnfsTer?
ENST00000700182.1:c.1480_1487del	ENSP00000514849.1:p.Tyr494AsnfsTer?
ENST00000357654.9:c.4873_4880del MANE Select	ENSP00000350283.3:p.Tyr1625AsnfsTer?
ENST00000471181.7:c.4936_4943del	ENSP00000418960.2:p.Tyr1646AsnfsTer?
ENST00000644379.1:c.1260_1267del
ENST00000352993.7:c.1447_1454del	ENSP00000312236.5:p.Tyr483AsnfsTer?
ENST00000357654.7:c.4873_4880del	ENSP00000350283.3:p.Tyr1625AsnfsTer?
ENST00000461221.5:c.*4656_*4663del	ENSP00000418548.1:n.*4656_*4663del
ENST00000468300.5:c.1561_1568del	ENSP00000417148.1:p.Tyr521AsnfsTer?
ENST00000471181.6:c.4936_4943del	ENSP00000418960.2:p.Tyr1646AsnfsTer?
ENST00000472490.1:n.26_33del
ENST00000478531.5:c.1561_1568del	ENSP00000420412.1:p.Tyr521AsnfsTer?
ENST00000484087.5:c.1186_1193del	ENSP00000419481.1:p.Tyr396AsnfsTer?
ENST00000491747.6:c.1561_1568del	ENSP00000420705.2:p.Tyr521AsnfsTer?
ENST00000493795.5:c.4732_4739del	ENSP00000418775.1:p.Tyr1578AsnfsTer?
ENST00000493919.5:c.1423_1430del	ENSP00000418819.1:p.Tyr475AsnfsTer?
ENST00000586385.5:c.5-7090_5-7083del	ENSP00000465818.1:n.5-7090_5-7083del
ENST00000591534.5:c.346_353del	ENSP00000467329.1:p.Tyr116AsnfsTer?
ENST00000591849.5:c.-98-20851_-98-20844del	ENSP00000465347.1:n.-98-20851_-98-20844del
NM_007294.3:c.4873_4880del , LRG_292t1:c.4873_4880del	NP_009225.1:p.Tyr1625AsnfsTer?
NM_007297.3:c.4732_4739del	NP_009228.2:p.Tyr1578AsnfsTer?
NM_007298.3:c.1561_1568del	NP_009229.2:p.Tyr521AsnfsTer?
NM_007299.3:c.1561_1568del	NP_009230.2:p.Tyr521AsnfsTer?
NM_007300.3:c.4936_4943del	NP_009231.2:p.Tyr1646AsnfsTer?
NR_027676.1:n.5009_5016del
NM_007294.4:c.4873_4880del MANE Select	NP_009225.1:p.Tyr1625AsnfsTer?
NM_007297.4:c.4732_4739del	NP_009228.2:p.Tyr1578AsnfsTer?
NM_007299.4:c.1561_1568del	NP_009230.2:p.Tyr521AsnfsTer?
NM_007300.4:c.4936_4943del	NP_009231.2:p.Tyr1646AsnfsTer?
NR_027676.2:n.5050_5057del