Canonical Allele Identifier: CA003545

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049143del , CM000679.2:g.43049143del	GRCh38
NC_000017.10:g.41201160del , CM000679.1:g.41201160del	GRCh37
NC_000017.9:g.38454686del	NCBI36
NG_005905.2:g.168843del , LRG_292:g.168843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5383del	ENSP00000417241.2:p.Ser1795HisfsTer?
ENST00000470026.6:c.5386del	ENSP00000419274.2:p.Ser1796HisfsTer?
ENST00000473961.6:c.5260del	ENSP00000420201.2:p.Ser1754HisfsTer?
ENST00000476777.6:c.5380del	ENSP00000417554.2:p.Ser1794HisfsTer?
ENST00000477152.6:c.5308del	ENSP00000419988.2:p.Ser1770HisfsTer?
ENST00000478531.6:c.2074del	ENSP00000420412.2:p.Ser692HisfsTer?
ENST00000489037.2:c.5308del	ENSP00000420781.2:p.Ser1770HisfsTer?
ENST00000493919.6:c.1936del	ENSP00000418819.2:p.Ser646HisfsTer?
ENST00000494123.6:c.5386del	ENSP00000419103.2:p.Ser1796HisfsTer?
ENST00000497488.2:c.4498del	ENSP00000418986.2:p.Ser1500HisfsTer?
ENST00000618469.2:c.5386del	ENSP00000478114.2:p.Ser1796HisfsTer?
ENST00000634433.2:c.5263del	ENSP00000489431.2:p.Ser1755HisfsTer?
ENST00000644379.2:c.5452del	ENSP00000496570.2:p.Ser1818HisfsTer?
ENST00000644555.2:c.1936del	ENSP00000494614.2:p.Ser646HisfsTer?
ENST00000652672.2:c.5245del	ENSP00000498906.2:p.Ser1749HisfsTer?
ENST00000484087.6:c.1948del	ENSP00000419481.2:p.Ser650HisfsTer?
ENST00000700081.1:n.1269del
ENST00000357654.9:c.5386del MANE Select	ENSP00000350283.3:p.Ser1796HisfsTer?
ENST00000471181.7:c.5449del	ENSP00000418960.2:p.Ser1817HisfsTer?
ENST00000644379.1:c.1773del
ENST00000352993.7:c.1960del	ENSP00000312236.5:p.Ser654HisfsTer?
ENST00000357654.7:c.5386del	ENSP00000350283.3:p.Ser1796HisfsTer?
ENST00000461221.5:c.*5169del	ENSP00000418548.1:n.*5169del
ENST00000468300.5:c.2021-1438del	ENSP00000417148.1:n.2021-1438del
ENST00000471181.6:c.5449del	ENSP00000418960.2:p.Ser1817HisfsTer?
ENST00000491747.6:c.2074del	ENSP00000420705.2:p.Ser692HisfsTer?
ENST00000493795.5:c.5245del	ENSP00000418775.1:p.Ser1749HisfsTer?
ENST00000586385.5:c.316del	ENSP00000465818.1:p.Ser106HisfsTer?
ENST00000591534.5:c.859del	ENSP00000467329.1:p.Ser287HisfsTer?
ENST00000591849.5:c.85del	ENSP00000465347.1:p.Ser29HisfsTer?
NM_007294.3:c.5386del , LRG_292t1:c.5386del	NP_009225.1:p.Ser1796HisfsTer?
NM_007297.3:c.5245del	NP_009228.2:p.Ser1749HisfsTer?
NM_007298.3:c.2074del	NP_009229.2:p.Ser692HisfsTer?
NM_007299.3:c.2021-1438del	NP_009230.2:n.2021-1438del
NM_007300.3:c.5449del	NP_009231.2:p.Ser1817HisfsTer?
NR_027676.1:n.5522del
NM_007294.4:c.5386del MANE Select	NP_009225.1:p.Ser1796HisfsTer?
NM_007297.4:c.5245del	NP_009228.2:p.Ser1749HisfsTer?
NM_007299.4:c.2021-1438del	NP_009230.2:n.2021-1438del
NM_007300.4:c.5449del	NP_009231.2:p.Ser1817HisfsTer?
NR_027676.2:n.5563del