Canonical Allele Identifier: CA915940270

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063929_43063930del , CM000679.2:g.43063929_43063930del	GRCh38
NC_000017.10:g.41215946_41215947del , CM000679.1:g.41215946_41215947del	GRCh37
NC_000017.9:g.38469472_38469473del	NCBI36
NG_005905.2:g.154054_154055del , LRG_292:g.154054_154055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5093_5094del	ENSP00000417241.2:p.Arg1698HisfsTer16
ENST00000470026.6:c.5096_5097del	ENSP00000419274.2:p.Arg1699HisfsTer16
ENST00000473961.6:c.4970_4971del	ENSP00000420201.2:p.Arg1657HisfsTer16
ENST00000476777.6:c.5090_5091del	ENSP00000417554.2:p.Arg1697HisfsTer16
ENST00000477152.6:c.5018_5019del	ENSP00000419988.2:p.Arg1673HisfsTer16
ENST00000478531.6:c.1784_1785del	ENSP00000420412.2:p.Arg595HisfsTer16
ENST00000489037.2:c.5018_5019del	ENSP00000420781.2:p.Arg1673HisfsTer16
ENST00000493919.6:c.1646_1647del	ENSP00000418819.2:p.Arg549HisfsTer16
ENST00000494123.6:c.5096_5097del	ENSP00000419103.2:p.Arg1699HisfsTer16
ENST00000497488.2:c.4208_4209del	ENSP00000418986.2:p.Arg1403HisfsTer16
ENST00000618469.2:c.5096_5097del	ENSP00000478114.2:p.Arg1699HisfsTer16
ENST00000634433.2:c.4973_4974del	ENSP00000489431.2:p.Arg1658HisfsTer16
ENST00000644379.2:c.5162_5163del	ENSP00000496570.2:p.Arg1721HisfsTer16
ENST00000644555.2:c.1646_1647del	ENSP00000494614.2:p.Arg549HisfsTer16
ENST00000652672.2:c.4955_4956del	ENSP00000498906.2:p.Arg1652HisfsTer16
ENST00000484087.6:c.1658_1659del	ENSP00000419481.2:p.Arg553HisfsTer16
ENST00000357654.9:c.5096_5097del MANE Select	ENSP00000350283.3:p.Arg1699HisfsTer16
ENST00000471181.7:c.5159_5160del	ENSP00000418960.2:p.Arg1720HisfsTer16
ENST00000644379.1:c.1483_1484del
ENST00000352993.7:c.1670_1671del	ENSP00000312236.5:p.Arg557HisfsTer16
ENST00000357654.7:c.5096_5097del	ENSP00000350283.3:p.Arg1699HisfsTer16
ENST00000461221.5:c.*4879_*4880del	ENSP00000418548.1:n.*4879_*4880del
ENST00000468300.5:c.1784_1785del	ENSP00000417148.1:p.Arg595HisfsTer16
ENST00000471181.6:c.5159_5160del	ENSP00000418960.2:p.Arg1720HisfsTer16
ENST00000478531.5:c.1784_1785del	ENSP00000420412.1:p.Arg595HisfsTer16
ENST00000484087.5:c.1409_1410del	ENSP00000419481.1:p.Arg470HisfsTer16
ENST00000491747.6:c.1784_1785del	ENSP00000420705.2:p.Arg595HisfsTer16
ENST00000493795.5:c.4955_4956del	ENSP00000418775.1:p.Arg1652HisfsTer16
ENST00000493919.5:c.1646_1647del	ENSP00000418819.1:p.Arg549HisfsTer16
ENST00000586385.5:c.26_27del	ENSP00000465818.1:p.Arg9HisfsTer16
ENST00000591534.5:c.569_570del	ENSP00000467329.1:p.Arg190HisfsTer16
ENST00000591849.5:c.-98-13740_-98-13739del	ENSP00000465347.1:n.-98-13740_-98-13739del
NM_007294.3:c.5096_5097del , LRG_292t1:c.5096_5097del	NP_009225.1:p.Arg1699HisfsTer16
NM_007297.3:c.4955_4956del	NP_009228.2:p.Arg1652HisfsTer16
NM_007298.3:c.1784_1785del	NP_009229.2:p.Arg595HisfsTer16
NM_007299.3:c.1784_1785del	NP_009230.2:p.Arg595HisfsTer16
NM_007300.3:c.5159_5160del	NP_009231.2:p.Arg1720HisfsTer16
NR_027676.1:n.5232_5233del
NM_007294.4:c.5096_5097del MANE Select	NP_009225.1:p.Arg1699HisfsTer16
NM_007297.4:c.4955_4956del	NP_009228.2:p.Arg1652HisfsTer16
NM_007299.4:c.1784_1785del	NP_009230.2:p.Arg595HisfsTer16
NM_007300.4:c.5159_5160del	NP_009231.2:p.Arg1720HisfsTer16
NR_027676.2:n.5273_5274del