Canonical Allele Identifier: CA2499224340

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2503103
• ClinVar RCV Id: RCV003229788

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045740del , CM000679.2:g.43045740del	GRCh38
NC_000017.10:g.41197757del , CM000679.1:g.41197757del	GRCh37
NC_000017.9:g.38451283del	NCBI36
NG_005905.2:g.172244del , LRG_292:g.172244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5527del	ENSP00000417241.2:p.Leu1843SerfsTer11
ENST00000470026.6:c.5530del	ENSP00000419274.2:p.Leu1844SerfsTer11
ENST00000473961.6:c.5404del	ENSP00000420201.2:p.Leu1802SerfsTer11
ENST00000476777.6:c.5524del	ENSP00000417554.2:p.Leu1842SerfsTer11
ENST00000477152.6:c.5452del	ENSP00000419988.2:p.Leu1818SerfsTer11
ENST00000478531.6:c.2218del	ENSP00000420412.2:p.Leu740SerfsTer11
ENST00000489037.2:c.5452del	ENSP00000420781.2:p.Leu1818SerfsTer11
ENST00000493919.6:c.2080del	ENSP00000418819.2:p.Leu694SerfsTer11
ENST00000494123.6:c.5530del	ENSP00000419103.2:p.Leu1844SerfsTer11
ENST00000497488.2:c.4642del	ENSP00000418986.2:p.Leu1548SerfsTer11
ENST00000618469.2:c.5530del	ENSP00000478114.2:p.Leu1844SerfsTer11
ENST00000634433.2:c.5407del	ENSP00000489431.2:p.Leu1803SerfsTer11
ENST00000644379.2:c.5596del	ENSP00000496570.2:p.Leu1866SerfsTer11
ENST00000644555.2:c.2080del	ENSP00000494614.2:p.Leu694SerfsTer11
ENST00000652672.2:c.5389del	ENSP00000498906.2:p.Leu1797SerfsTer11
ENST00000484087.6:c.2092del	ENSP00000419481.2:p.Leu698SerfsTer11
ENST00000700081.1:n.1413del
ENST00000700082.1:n.894del
ENST00000357654.9:c.5530del MANE Select	ENSP00000350283.3:p.Leu1844SerfsTer11
ENST00000471181.7:c.5593del	ENSP00000418960.2:p.Leu1865SerfsTer11
ENST00000644379.1:c.1917del
ENST00000352993.7:c.2104del	ENSP00000312236.5:p.Leu702SerfsTer11
ENST00000357654.7:c.5530del	ENSP00000350283.3:p.Leu1844SerfsTer11
ENST00000461221.5:c.*5313del	ENSP00000418548.1:n.*5313del
ENST00000468300.5:c.*44del	ENSP00000417148.1:n.*44del
ENST00000471181.6:c.5593del	ENSP00000418960.2:p.Leu1865SerfsTer11
ENST00000491747.6:c.2218del	ENSP00000420705.2:p.Leu740SerfsTer11
ENST00000493795.5:c.5389del	ENSP00000418775.1:p.Leu1797SerfsTer11
ENST00000586385.5:c.460del	ENSP00000465818.1:p.Leu154SerfsTer11
ENST00000591534.5:c.1003del	ENSP00000467329.1:p.Leu335SerfsTer11
ENST00000591849.5:c.229del	ENSP00000465347.1:p.Leu77SerfsTer11
NM_007294.3:c.5530del , LRG_292t1:c.5530del	NP_009225.1:p.Leu1844SerfsTer11
NM_007297.3:c.5389del	NP_009228.2:p.Leu1797SerfsTer11
NM_007298.3:c.2218del	NP_009229.2:p.Leu740SerfsTer11
NM_007299.3:c.*44del	NP_009230.2:n.*44del
NM_007300.3:c.5593del	NP_009231.2:p.Leu1865SerfsTer11
NR_027676.1:n.5666del
NM_007294.4:c.5530del MANE Select	NP_009225.1:p.Leu1844SerfsTer11
NM_007297.4:c.5389del	NP_009228.2:p.Leu1797SerfsTer11
NM_007299.4:c.*44del	NP_009230.2:n.*44del
NM_007300.4:c.5593del	NP_009231.2:p.Leu1865SerfsTer11
NR_027676.2:n.5707del