Canonical Allele Identifier: CA2576282212

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067512_43067513del , CM000679.2:g.43067512_43067513del	GRCh38
NC_000017.10:g.41219529_41219530del , CM000679.1:g.41219529_41219530del	GRCh37
NC_000017.9:g.38473055_38473056del	NCBI36
NG_005905.2:g.150472_150473del , LRG_292:g.150472_150473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5071+96_5071+97del	ENSP00000417241.2:n.5071+96_5071+97del
ENST00000470026.6:c.5074+96_5074+97del	ENSP00000419274.2:n.5074+96_5074+97del
ENST00000473961.6:c.4948+96_4948+97del	ENSP00000420201.2:n.4948+96_4948+97del
ENST00000476777.6:c.5068+96_5068+97del	ENSP00000417554.2:n.5068+96_5068+97del
ENST00000477152.6:c.4996+96_4996+97del	ENSP00000419988.2:n.4996+96_4996+97del
ENST00000478531.6:c.1762+96_1762+97del	ENSP00000420412.2:n.1762+96_1762+97del
ENST00000489037.2:c.4996+96_4996+97del	ENSP00000420781.2:n.4996+96_4996+97del
ENST00000493919.6:c.1624+96_1624+97del	ENSP00000418819.2:n.1624+96_1624+97del
ENST00000494123.6:c.5074+96_5074+97del	ENSP00000419103.2:n.5074+96_5074+97del
ENST00000497488.2:c.4186+96_4186+97del	ENSP00000418986.2:n.4186+96_4186+97del
ENST00000618469.2:c.5074+96_5074+97del	ENSP00000478114.2:n.5074+96_5074+97del
ENST00000634433.2:c.4951+96_4951+97del	ENSP00000489431.2:n.4951+96_4951+97del
ENST00000644379.2:c.5140+96_5140+97del	ENSP00000496570.2:n.5140+96_5140+97del
ENST00000644555.2:c.1624+96_1624+97del	ENSP00000494614.2:n.1624+96_1624+97del
ENST00000652672.2:c.4933+96_4933+97del	ENSP00000498906.2:n.4933+96_4933+97del
ENST00000484087.6:c.1636+96_1636+97del	ENSP00000419481.2:n.1636+96_1636+97del
ENST00000357654.9:c.5074+96_5074+97del MANE Select	ENSP00000350283.3:n.5074+96_5074+97del
ENST00000471181.7:c.5137+96_5137+97del	ENSP00000418960.2:n.5137+96_5137+97del
ENST00000644379.1:c.1461+96_1461+97del
ENST00000352993.7:c.1648+96_1648+97del	ENSP00000312236.5:n.1648+96_1648+97del
ENST00000357654.7:c.5074+96_5074+97del	ENSP00000350283.3:n.5074+96_5074+97del
ENST00000461221.5:c.*4857+96_*4857+97del	ENSP00000418548.1:n.*4857+96_*4857+97del
ENST00000468300.5:c.1762+96_1762+97del	ENSP00000417148.1:n.1762+96_1762+97del
ENST00000471181.6:c.5137+96_5137+97del	ENSP00000418960.2:n.5137+96_5137+97del
ENST00000472490.1:n.323_324del
ENST00000478531.5:c.1762+96_1762+97del	ENSP00000420412.1:n.1762+96_1762+97del
ENST00000484087.5:c.1387+96_1387+97del	ENSP00000419481.1:n.1387+96_1387+97del
ENST00000491747.6:c.1762+96_1762+97del	ENSP00000420705.2:n.1762+96_1762+97del
ENST00000493795.5:c.4933+96_4933+97del	ENSP00000418775.1:n.4933+96_4933+97del
ENST00000493919.5:c.1624+96_1624+97del	ENSP00000418819.1:n.1624+96_1624+97del
ENST00000586385.5:c.5-3561_5-3560del	ENSP00000465818.1:n.5-3561_5-3560del
ENST00000591534.5:c.547+96_547+97del	ENSP00000467329.1:n.547+96_547+97del
ENST00000591849.5:c.-98-17322_-98-17321del	ENSP00000465347.1:n.-98-17322_-98-17321de...
NM_007294.3:c.5074+96_5074+97del , LRG_292t1:c.5074+96_5074+97del	NP_009225.1:n.5074+96_5074+97del
NM_007297.3:c.4933+96_4933+97del	NP_009228.2:n.4933+96_4933+97del
NM_007298.3:c.1762+96_1762+97del	NP_009229.2:n.1762+96_1762+97del
NM_007299.3:c.1762+96_1762+97del	NP_009230.2:n.1762+96_1762+97del
NM_007300.3:c.5137+96_5137+97del	NP_009231.2:n.5137+96_5137+97del
NR_027676.1:n.5210+96_5210+97del
NM_007294.4:c.5074+96_5074+97del MANE Select	NP_009225.1:n.5074+96_5074+97del
NM_007297.4:c.4933+96_4933+97del	NP_009228.2:n.4933+96_4933+97del
NM_007299.4:c.1762+96_1762+97del	NP_009230.2:n.1762+96_1762+97del
NM_007300.4:c.5137+96_5137+97del	NP_009231.2:n.5137+96_5137+97del
NR_027676.2:n.5251+96_5251+97del