Canonical Allele Identifier: CA2638061750

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43067275-AGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067277_43067279del , CM000679.2:g.43067277_43067279del	GRCh38
NC_000017.10:g.41219294_41219296del , CM000679.1:g.41219294_41219296del	GRCh37
NC_000017.9:g.38472820_38472822del	NCBI36
NG_005905.2:g.150706_150708del , LRG_292:g.150706_150708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+330_5071+332del	ENSP00000417241.2:n.5071+330_5071+332del
ENST00000470026.6:c.5074+330_5074+332del	ENSP00000419274.2:n.5074+330_5074+332del
ENST00000473961.6:c.4948+330_4948+332del	ENSP00000420201.2:n.4948+330_4948+332del
ENST00000476777.6:c.5068+330_5068+332del	ENSP00000417554.2:n.5068+330_5068+332del
ENST00000477152.6:c.4996+330_4996+332del	ENSP00000419988.2:n.4996+330_4996+332del
ENST00000478531.6:c.1762+330_1762+332del	ENSP00000420412.2:n.1762+330_1762+332del
ENST00000489037.2:c.4996+330_4996+332del	ENSP00000420781.2:n.4996+330_4996+332del
ENST00000493919.6:c.1624+330_1624+332del	ENSP00000418819.2:n.1624+330_1624+332del
ENST00000494123.6:c.5074+330_5074+332del	ENSP00000419103.2:n.5074+330_5074+332del
ENST00000497488.2:c.4186+330_4186+332del	ENSP00000418986.2:n.4186+330_4186+332del
ENST00000618469.2:c.5074+330_5074+332del	ENSP00000478114.2:n.5074+330_5074+332del
ENST00000634433.2:c.4951+330_4951+332del	ENSP00000489431.2:n.4951+330_4951+332del
ENST00000644379.2:c.5140+330_5140+332del	ENSP00000496570.2:n.5140+330_5140+332del
ENST00000644555.2:c.1624+330_1624+332del	ENSP00000494614.2:n.1624+330_1624+332del
ENST00000652672.2:c.4933+330_4933+332del	ENSP00000498906.2:n.4933+330_4933+332del
ENST00000484087.6:c.1636+330_1636+332del	ENSP00000419481.2:n.1636+330_1636+332del
ENST00000357654.9:c.5074+330_5074+332del MANE Select	ENSP00000350283.3:n.5074+330_5074+332del
ENST00000471181.7:c.5137+330_5137+332del	ENSP00000418960.2:n.5137+330_5137+332del
ENST00000644379.1:c.1461+330_1461+332del
ENST00000352993.7:c.1648+330_1648+332del	ENSP00000312236.5:n.1648+330_1648+332del
ENST00000357654.7:c.5074+330_5074+332del	ENSP00000350283.3:n.5074+330_5074+332del
ENST00000461221.5:c.*4857+330_*4857+332del	ENSP00000418548.1:n.*4857+330_*4857+332del
ENST00000468300.5:c.1762+330_1762+332del	ENSP00000417148.1:n.1762+330_1762+332del
ENST00000471181.6:c.5137+330_5137+332del	ENSP00000418960.2:n.5137+330_5137+332del
ENST00000472490.1:n.557_559del
ENST00000478531.5:c.1762+330_1762+332del	ENSP00000420412.1:n.1762+330_1762+332del
ENST00000484087.5:c.1387+330_1387+332del	ENSP00000419481.1:n.1387+330_1387+332del
ENST00000491747.6:c.1762+330_1762+332del	ENSP00000420705.2:n.1762+330_1762+332del
ENST00000493795.5:c.4933+330_4933+332del	ENSP00000418775.1:n.4933+330_4933+332del
ENST00000493919.5:c.1624+330_1624+332del	ENSP00000418819.1:n.1624+330_1624+332del
ENST00000586385.5:c.5-3327_5-3325del	ENSP00000465818.1:n.5-3327_5-3325del
ENST00000591534.5:c.547+330_547+332del	ENSP00000467329.1:n.547+330_547+332del
ENST00000591849.5:c.-98-17088_-98-17086del	ENSP00000465347.1:n.-98-17088_-98-17086del
NM_007294.3:c.5074+330_5074+332del , LRG_292t1:c.5074+330_5074+332del	NP_009225.1:n.5074+330_5074+332del
NM_007297.3:c.4933+330_4933+332del	NP_009228.2:n.4933+330_4933+332del
NM_007298.3:c.1762+330_1762+332del	NP_009229.2:n.1762+330_1762+332del
NM_007299.3:c.1762+330_1762+332del	NP_009230.2:n.1762+330_1762+332del
NM_007300.3:c.5137+330_5137+332del	NP_009231.2:n.5137+330_5137+332del
NR_027676.1:n.5210+330_5210+332del
NM_007294.4:c.5074+330_5074+332del MANE Select	NP_009225.1:n.5074+330_5074+332del
NM_007297.4:c.4933+330_4933+332del	NP_009228.2:n.4933+330_4933+332del
NM_007299.4:c.1762+330_1762+332del	NP_009230.2:n.1762+330_1762+332del
NM_007300.4:c.5137+330_5137+332del	NP_009231.2:n.5137+330_5137+332del
NR_027676.2:n.5251+330_5251+332del