Canonical Allele Identifier: CA2638062522

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071075_43071076insGG , CM000679.2:g.43071075_43071076insGG	GRCh38
NC_000017.10:g.41223092_41223093insGG , CM000679.1:g.41223092_41223093insGG	GRCh37
NC_000017.9:g.38476618_38476619insGG	NCBI36
NG_005905.2:g.146908_146909insCC , LRG_292:g.146908_146909insCC

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4838_4839insCC MANE Select	NP_009225.1:p.Pro1614LeufsTer20
ENST00000357654.9:c.4838_4839insCC MANE Select	ENSP00000350283.3:p.Pro1614LeufsTer20
NM_007294.3:c.4838_4839insCC , LRG_292t1:c.4838_4839insCC	NP_009225.1:p.Pro1614LeufsTer20
NM_007297.3:c.4697_4698insCC	NP_009228.2:p.Pro1567LeufsTer20
NM_007297.4:c.4697_4698insCC	NP_009228.2:p.Pro1567LeufsTer20
NM_007298.3:c.1526_1527insCC	NP_009229.2:p.Pro510LeufsTer20
NM_007299.3:c.1526_1527insCC	NP_009230.2:p.Pro510LeufsTer20
NM_007299.4:c.1526_1527insCC	NP_009230.2:p.Pro510LeufsTer20
NM_007300.3:c.4901_4902insCC	NP_009231.2:p.Pro1635LeufsTer20
NM_007300.4:c.4901_4902insCC	NP_009231.2:p.Pro1635LeufsTer20
NR_027676.1:n.4974_4975insCC
NR_027676.2:n.5015_5016insCC
ENST00000352993.7:c.1412_1413insCC	ENSP00000312236.5:p.Pro472LeufsTer20
ENST00000357654.7:c.4838_4839insCC	ENSP00000350283.3:p.Pro1614LeufsTer20
ENST00000461221.5:c.*4621_*4622insCC	ENSP00000418548.1:n.*4621_*4622insCC
ENST00000461574.2:c.4835_4836insCC	ENSP00000417241.2:p.Pro1613LeufsTer20
ENST00000468300.5:c.1526_1527insCC	ENSP00000417148.1:p.Pro510LeufsTer20
ENST00000470026.6:c.4838_4839insCC	ENSP00000419274.2:p.Pro1614LeufsTer20
ENST00000471181.6:c.4901_4902insCC	ENSP00000418960.2:p.Pro1635LeufsTer20
ENST00000471181.7:c.4901_4902insCC	ENSP00000418960.2:p.Pro1635LeufsTer20
ENST00000473961.6:c.4712_4713insCC	ENSP00000420201.2:p.Pro1572LeufsTer20
ENST00000476777.6:c.4832_4833insCC	ENSP00000417554.2:p.Pro1612LeufsTer20
ENST00000477152.6:c.4760_4761insCC	ENSP00000419988.2:p.Pro1588LeufsTer20
ENST00000478531.5:c.1526_1527insCC	ENSP00000420412.1:p.Pro510LeufsTer20
ENST00000478531.6:c.1526_1527insCC	ENSP00000420412.2:p.Pro510LeufsTer20
ENST00000484087.5:c.1151_1152insCC	ENSP00000419481.1:p.Pro385LeufsTer20
ENST00000484087.6:c.1400_1401insCC	ENSP00000419481.2:p.Pro468LeufsTer20
ENST00000489037.2:c.4760_4761insCC	ENSP00000420781.2:p.Pro1588LeufsTer20
ENST00000491747.6:c.1526_1527insCC	ENSP00000420705.2:p.Pro510LeufsTer20
ENST00000493795.5:c.4697_4698insCC	ENSP00000418775.1:p.Pro1567LeufsTer20
ENST00000493919.5:c.1388_1389insCC	ENSP00000418819.1:p.Pro464LeufsTer20
ENST00000493919.6:c.1388_1389insCC	ENSP00000418819.2:p.Pro464LeufsTer20
ENST00000494123.6:c.4838_4839insCC	ENSP00000419103.2:p.Pro1614LeufsTer20
ENST00000497488.2:c.3950_3951insCC	ENSP00000418986.2:p.Pro1318LeufsTer20
ENST00000586385.5:c.5-7125_5-7124insCC	ENSP00000465818.1:n.5-7125_5-7124insCC
ENST00000591534.5:c.311_312insCC	ENSP00000467329.1:p.Pro105LeufsTer20
ENST00000591849.5:c.-98-20886_-98-20885insCC	ENSP00000465347.1:n.-98-20886_-98-20885insCC
ENST00000618469.2:c.4838_4839insCC	ENSP00000478114.2:p.Pro1614LeufsTer20
ENST00000634433.2:c.4715_4716insCC	ENSP00000489431.2:p.Pro1573LeufsTer20
ENST00000644379.1:c.1225_1226insCC
ENST00000644379.2:c.4904_4905insCC	ENSP00000496570.2:p.Pro1636LeufsTer20
ENST00000644555.2:c.1388_1389insCC	ENSP00000494614.2:p.Pro464LeufsTer20
ENST00000652672.2:c.4697_4698insCC	ENSP00000498906.2:p.Pro1567LeufsTer20
ENST00000700182.1:c.1445_1446insCC	ENSP00000514849.1:p.Pro483LeufsTer20