Canonical Allele Identifier: CA2260770847

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43066791_43066792delinsTC , CM000679.2:g.43066791_43066792delinsTC	GRCh38
NC_000017.10:g.41218808_41218809delinsTC , CM000679.1:g.41218808_41218809delinsTC	GRCh37
NC_000017.9:g.38472334_38472335delinsTC	NCBI36
NG_005905.2:g.151192_151193delinsGA , LRG_292:g.151192_151193delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5071+816_5071+817delinsGA	ENSP00000417241.2:n.5071+816_5071+817delinsGA
ENST00000470026.6:c.5074+816_5074+817delinsGA	ENSP00000419274.2:n.5074+816_5074+817delinsGA
ENST00000473961.6:c.4948+816_4948+817delinsGA	ENSP00000420201.2:n.4948+816_4948+817delinsGA
ENST00000476777.6:c.5068+816_5068+817delinsGA	ENSP00000417554.2:n.5068+816_5068+817delinsGA
ENST00000477152.6:c.4996+816_4996+817delinsGA	ENSP00000419988.2:n.4996+816_4996+817delinsGA
ENST00000478531.6:c.1762+816_1762+817delinsGA	ENSP00000420412.2:n.1762+816_1762+817delinsGA
ENST00000489037.2:c.4996+816_4996+817delinsGA	ENSP00000420781.2:n.4996+816_4996+817delinsGA
ENST00000493919.6:c.1624+816_1624+817delinsGA	ENSP00000418819.2:n.1624+816_1624+817delinsGA
ENST00000494123.6:c.5074+816_5074+817delinsGA	ENSP00000419103.2:n.5074+816_5074+817delinsGA
ENST00000497488.2:c.4186+816_4186+817delinsGA	ENSP00000418986.2:n.4186+816_4186+817delinsGA
ENST00000618469.2:c.5074+816_5074+817delinsGA	ENSP00000478114.2:n.5074+816_5074+817delinsGA
ENST00000634433.2:c.4951+816_4951+817delinsGA	ENSP00000489431.2:n.4951+816_4951+817delinsGA
ENST00000644379.2:c.5140+816_5140+817delinsGA	ENSP00000496570.2:n.5140+816_5140+817delinsGA
ENST00000644555.2:c.1624+816_1624+817delinsGA	ENSP00000494614.2:n.1624+816_1624+817delinsGA
ENST00000652672.2:c.4933+816_4933+817delinsGA	ENSP00000498906.2:n.4933+816_4933+817delinsGA
ENST00000484087.6:c.1636+816_1636+817delinsGA	ENSP00000419481.2:n.1636+816_1636+817delinsGA
ENST00000357654.9:c.5074+816_5074+817delinsGA MANE Select	ENSP00000350283.3:n.5074+816_5074+817delinsGA
ENST00000471181.7:c.5137+816_5137+817delinsGA	ENSP00000418960.2:n.5137+816_5137+817delinsGA
ENST00000644379.1:c.1461+816_1461+817delinsGA
ENST00000352993.7:c.1648+816_1648+817delinsGA	ENSP00000312236.5:n.1648+816_1648+817delinsGA
ENST00000357654.7:c.5074+816_5074+817delinsGA	ENSP00000350283.3:n.5074+816_5074+817delinsGA
ENST00000461221.5:c.*4857+816_*4857+817delinsGA	ENSP00000418548.1:n.*4857+816_*4857+817delinsGA
ENST00000468300.5:c.1762+816_1762+817delinsGA	ENSP00000417148.1:n.1762+816_1762+817delinsGA
ENST00000471181.6:c.5137+816_5137+817delinsGA	ENSP00000418960.2:n.5137+816_5137+817delinsGA
ENST00000478531.5:c.1762+816_1762+817delinsGA	ENSP00000420412.1:n.1762+816_1762+817delinsGA
ENST00000484087.5:c.1387+816_1387+817delinsGA	ENSP00000419481.1:n.1387+816_1387+817delinsGA
ENST00000491747.6:c.1762+816_1762+817delinsGA	ENSP00000420705.2:n.1762+816_1762+817delinsGA
ENST00000493795.5:c.4933+816_4933+817delinsGA	ENSP00000418775.1:n.4933+816_4933+817delinsGA
ENST00000493919.5:c.1624+816_1624+817delinsGA	ENSP00000418819.1:n.1624+816_1624+817delinsGA
ENST00000586385.5:c.5-2841_5-2840delinsGA	ENSP00000465818.1:n.5-2841_5-2840delinsGA
ENST00000591534.5:c.547+816_547+817delinsGA	ENSP00000467329.1:n.547+816_547+817delinsGA
ENST00000591849.5:c.-98-16602_-98-16601delinsGA	ENSP00000465347.1:n.-98-16602_-98-16601delinsGA
NM_007294.3:c.5074+816_5074+817delinsGA , LRG_292t1:c.5074+816_5074+817delinsGA	NP_009225.1:n.5074+816_5074+817delinsGA
NM_007297.3:c.4933+816_4933+817delinsGA	NP_009228.2:n.4933+816_4933+817delinsGA
NM_007298.3:c.1762+816_1762+817delinsGA	NP_009229.2:n.1762+816_1762+817delinsGA
NM_007299.3:c.1762+816_1762+817delinsGA	NP_009230.2:n.1762+816_1762+817delinsGA
NM_007300.3:c.5137+816_5137+817delinsGA	NP_009231.2:n.5137+816_5137+817delinsGA
NR_027676.1:n.5210+816_5210+817delinsGA
NM_007294.4:c.5074+816_5074+817delinsGA MANE Select	NP_009225.1:n.5074+816_5074+817delinsGA
NM_007297.4:c.4933+816_4933+817delinsGA	NP_009228.2:n.4933+816_4933+817delinsGA
NM_007299.4:c.1762+816_1762+817delinsGA	NP_009230.2:n.1762+816_1762+817delinsGA
NM_007300.4:c.5137+816_5137+817delinsGA	NP_009231.2:n.5137+816_5137+817delinsGA
NR_027676.2:n.5251+816_5251+817delinsGA