Canonical Allele Identifier: CA915940245

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063929_43063930insAAA , CM000679.2:g.43063929_43063930insAAA	GRCh38
NC_000017.10:g.41215946_41215947insAAA , CM000679.1:g.41215946_41215947insAAA	GRCh37
NC_000017.9:g.38469472_38469473insAAA	NCBI36
NG_005905.2:g.154054_154055insTTT , LRG_292:g.154054_154055insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5093_5094insTTT	ENSP00000417241.2:p.Arg1698_Thr1699insLeu
ENST00000470026.6:c.5096_5097insTTT	ENSP00000419274.2:p.Arg1699_Thr1700insLeu
ENST00000473961.6:c.4970_4971insTTT	ENSP00000420201.2:p.Arg1657_Thr1658insLeu
ENST00000476777.6:c.5090_5091insTTT	ENSP00000417554.2:p.Arg1697_Thr1698insLeu
ENST00000477152.6:c.5018_5019insTTT	ENSP00000419988.2:p.Arg1673_Thr1674insLeu
ENST00000478531.6:c.1784_1785insTTT	ENSP00000420412.2:p.Arg595_Thr596insLeu
ENST00000489037.2:c.5018_5019insTTT	ENSP00000420781.2:p.Arg1673_Thr1674insLeu
ENST00000493919.6:c.1646_1647insTTT	ENSP00000418819.2:p.Arg549_Thr550insLeu
ENST00000494123.6:c.5096_5097insTTT	ENSP00000419103.2:p.Arg1699_Thr1700insLeu
ENST00000497488.2:c.4208_4209insTTT	ENSP00000418986.2:p.Arg1403_Thr1404insLeu
ENST00000618469.2:c.5096_5097insTTT	ENSP00000478114.2:p.Arg1699_Thr1700insLeu
ENST00000634433.2:c.4973_4974insTTT	ENSP00000489431.2:p.Arg1658_Thr1659insLeu
ENST00000644379.2:c.5162_5163insTTT	ENSP00000496570.2:p.Arg1721_Thr1722insLeu
ENST00000644555.2:c.1646_1647insTTT	ENSP00000494614.2:p.Arg549_Thr550insLeu
ENST00000652672.2:c.4955_4956insTTT	ENSP00000498906.2:p.Arg1652_Thr1653insLeu
ENST00000484087.6:c.1658_1659insTTT	ENSP00000419481.2:p.Arg553_Thr554insLeu
ENST00000357654.9:c.5096_5097insTTT MANE Select	ENSP00000350283.3:p.Arg1699_Thr1700insLeu
ENST00000471181.7:c.5159_5160insTTT	ENSP00000418960.2:p.Arg1720_Thr1721insLeu
ENST00000644379.1:c.1483_1484insTTT
ENST00000352993.7:c.1670_1671insTTT	ENSP00000312236.5:p.Arg557_Thr558insLeu
ENST00000357654.7:c.5096_5097insTTT	ENSP00000350283.3:p.Arg1699_Thr1700insLeu
ENST00000461221.5:c.*4879_*4880insTTT	ENSP00000418548.1:n.*4879_*4880insTTT
ENST00000468300.5:c.1784_1785insTTT	ENSP00000417148.1:p.Arg595_Thr596insLeu
ENST00000471181.6:c.5159_5160insTTT	ENSP00000418960.2:p.Arg1720_Thr1721insLeu
ENST00000478531.5:c.1784_1785insTTT	ENSP00000420412.1:p.Arg595_Thr596insLeu
ENST00000484087.5:c.1409_1410insTTT	ENSP00000419481.1:p.Arg470_Thr471insLeu
ENST00000491747.6:c.1784_1785insTTT	ENSP00000420705.2:p.Arg595_Thr596insLeu
ENST00000493795.5:c.4955_4956insTTT	ENSP00000418775.1:p.Arg1652_Thr1653insLeu
ENST00000493919.5:c.1646_1647insTTT	ENSP00000418819.1:p.Arg549_Thr550insLeu
ENST00000586385.5:c.26_27insTTT	ENSP00000465818.1:p.Arg9_Thr10insLeu
ENST00000591534.5:c.569_570insTTT	ENSP00000467329.1:p.Arg190_Thr191insLeu
ENST00000591849.5:c.-98-13740_-98-13739insTTT	ENSP00000465347.1:n.-98-13740_-98-13739insTTT
NM_007294.3:c.5096_5097insTTT , LRG_292t1:c.5096_5097insTTT	NP_009225.1:p.Arg1699_Thr1700insLeu
NM_007297.3:c.4955_4956insTTT	NP_009228.2:p.Arg1652_Thr1653insLeu
NM_007298.3:c.1784_1785insTTT	NP_009229.2:p.Arg595_Thr596insLeu
NM_007299.3:c.1784_1785insTTT	NP_009230.2:p.Arg595_Thr596insLeu
NM_007300.3:c.5159_5160insTTT	NP_009231.2:p.Arg1720_Thr1721insLeu
NR_027676.1:n.5232_5233insTTT
NM_007294.4:c.5096_5097insTTT MANE Select	NP_009225.1:p.Arg1699_Thr1700insLeu
NM_007297.4:c.4955_4956insTTT	NP_009228.2:p.Arg1652_Thr1653insLeu
NM_007299.4:c.1784_1785insTTT	NP_009230.2:p.Arg595_Thr596insLeu
NM_007300.4:c.5159_5160insTTT	NP_009231.2:p.Arg1720_Thr1721insLeu
NR_027676.2:n.5273_5274insTTT