Canonical Allele Identifier: CA2638036266

Gene: BRCA1

Linked Data

• dbSNP Id: rs2152482866
• gnomAD v4: 17-43045685-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045687del , CM000679.2:g.43045687del	GRCh38
NC_000017.10:g.41197704del , CM000679.1:g.41197704del	GRCh37
NC_000017.9:g.38451230del	NCBI36
NG_005905.2:g.172298del , LRG_292:g.172298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5581del	ENSP00000417241.2:p.His1861ThrfsTer?
ENST00000470026.6:c.5584del	ENSP00000419274.2:p.His1862ThrfsTer?
ENST00000473961.6:c.5458del	ENSP00000420201.2:p.His1820ThrfsTer?
ENST00000476777.6:c.5578del	ENSP00000417554.2:p.His1860ThrfsTer?
ENST00000477152.6:c.5506del	ENSP00000419988.2:p.His1836ThrfsTer?
ENST00000478531.6:c.2272del	ENSP00000420412.2:p.His758ThrfsTer?
ENST00000489037.2:c.5506del	ENSP00000420781.2:p.His1836ThrfsTer?
ENST00000493919.6:c.2134del	ENSP00000418819.2:p.His712ThrfsTer?
ENST00000494123.6:c.5584del	ENSP00000419103.2:p.His1862ThrfsTer?
ENST00000497488.2:c.4696del	ENSP00000418986.2:p.His1566ThrfsTer?
ENST00000618469.2:c.5584del	ENSP00000478114.2:p.His1862ThrfsTer?
ENST00000634433.2:c.5461del	ENSP00000489431.2:p.His1821ThrfsTer?
ENST00000644379.2:c.5650del	ENSP00000496570.2:p.His1884ThrfsTer?
ENST00000644555.2:c.2134del	ENSP00000494614.2:p.His712ThrfsTer?
ENST00000652672.2:c.5443del	ENSP00000498906.2:p.His1815ThrfsTer?
ENST00000484087.6:c.2146del	ENSP00000419481.2:p.His716ThrfsTer?
ENST00000700081.1:n.1467del
ENST00000700082.1:n.948del
ENST00000357654.9:c.5584del MANE Select	ENSP00000350283.3:p.His1862ThrfsTer?
ENST00000471181.7:c.5647del	ENSP00000418960.2:p.His1883ThrfsTer?
ENST00000644379.1:c.1971del
ENST00000352993.7:c.2158del	ENSP00000312236.5:p.His720ThrfsTer?
ENST00000357654.7:c.5584del	ENSP00000350283.3:p.His1862ThrfsTer?
ENST00000461221.5:c.*5367del	ENSP00000418548.1:n.*5367del
ENST00000468300.5:c.*98del	ENSP00000417148.1:n.*98del
ENST00000471181.6:c.5647del	ENSP00000418960.2:p.His1883ThrfsTer?
ENST00000491747.6:c.2272del	ENSP00000420705.2:p.His758ThrfsTer?
ENST00000493795.5:c.5443del	ENSP00000418775.1:p.His1815ThrfsTer?
ENST00000586385.5:c.514del	ENSP00000465818.1:p.His172ThrfsTer?
ENST00000591534.5:c.1057del	ENSP00000467329.1:p.His353ThrfsTer?
ENST00000591849.5:c.283del	ENSP00000465347.1:p.His95ThrfsTer?
NM_007294.3:c.5584del , LRG_292t1:c.5584del	NP_009225.1:p.His1862ThrfsTer?
NM_007297.3:c.5443del	NP_009228.2:p.His1815ThrfsTer?
NM_007298.3:c.2272del	NP_009229.2:p.His758ThrfsTer?
NM_007299.3:c.*98del	NP_009230.2:n.*98del
NM_007300.3:c.5647del	NP_009231.2:p.His1883ThrfsTer?
NR_027676.1:n.5720del
NM_007294.4:c.5584del MANE Select	NP_009225.1:p.His1862ThrfsTer?
NM_007297.4:c.5443del	NP_009228.2:p.His1815ThrfsTer?
NM_007299.4:c.*98del	NP_009230.2:n.*98del
NM_007300.4:c.5647del	NP_009231.2:p.His1883ThrfsTer?
NR_027676.2:n.5761del