Canonical Allele Identifier: CA2638064052

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43091290-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091292del , CM000679.2:g.43091292del	GRCh38
NC_000017.10:g.41243309del , CM000679.1:g.41243309del	GRCh37
NC_000017.9:g.38496835del	NCBI36
NG_005905.2:g.126693del , LRG_292:g.126693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4304del
ENST00000461574.2:c.4096+144del	ENSP00000417241.2:n.4096+144del
ENST00000470026.6:c.4096+144del	ENSP00000419274.2:n.4096+144del
ENST00000473961.6:c.3970+144del	ENSP00000420201.2:n.3970+144del
ENST00000476777.6:c.4093+144del	ENSP00000417554.2:n.4093+144del
ENST00000477152.6:c.4018+144del	ENSP00000419988.2:n.4018+144del
ENST00000478531.6:c.785-259del	ENSP00000420412.2:n.785-259del
ENST00000489037.2:c.4018+144del	ENSP00000420781.2:n.4018+144del
ENST00000493919.6:c.647-259del	ENSP00000418819.2:n.647-259del
ENST00000494123.6:c.4096+144del	ENSP00000419103.2:n.4096+144del
ENST00000497488.2:c.3208+144del	ENSP00000418986.2:n.3208+144del
ENST00000618469.2:c.4096+144del	ENSP00000478114.2:n.4096+144del
ENST00000634433.2:c.3973+144del	ENSP00000489431.2:n.3973+144del
ENST00000644379.2:c.4096+144del	ENSP00000496570.2:n.4096+144del
ENST00000644555.2:c.647-259del	ENSP00000494614.2:n.647-259del
ENST00000652672.2:c.3955+144del	ENSP00000498906.2:n.3955+144del
ENST00000484087.6:c.665-259del	ENSP00000419481.2:n.665-259del
ENST00000700182.1:c.707-259del	ENSP00000514849.1:n.707-259del
ENST00000357654.9:c.4096+144del MANE Select	ENSP00000350283.3:n.4096+144del
ENST00000471181.7:c.4096+144del	ENSP00000418960.2:n.4096+144del
ENST00000644379.1:c.417+144del
ENST00000352993.7:c.671-259del	ENSP00000312236.5:n.671-259del
ENST00000354071.7:c.*40del	ENSP00000326002.7:n.*40del
ENST00000357654.7:c.4096+144del	ENSP00000350283.3:n.4096+144del
ENST00000461221.5:c.*3879+144del	ENSP00000418548.1:n.*3879+144del
ENST00000461574.1:c.390+144del
ENST00000468300.5:c.788-259del	ENSP00000417148.1:n.788-259del
ENST00000471181.6:c.4096+144del	ENSP00000418960.2:n.4096+144del
ENST00000478531.5:c.785-259del	ENSP00000420412.1:n.785-259del
ENST00000484087.5:c.410-259del	ENSP00000419481.1:n.410-259del
ENST00000487825.5:c.413-259del	ENSP00000418212.1:n.413-259del
ENST00000491747.6:c.788-259del	ENSP00000420705.2:n.788-259del
ENST00000493795.5:c.3955+144del	ENSP00000418775.1:n.3955+144del
ENST00000493919.5:c.647-259del	ENSP00000418819.1:n.647-259del
ENST00000586385.5:c.5-27340del	ENSP00000465818.1:n.5-27340del
ENST00000591534.5:c.-43-16770del	ENSP00000467329.1:n.-43-16770del
ENST00000591849.5:c.-99+33980del	ENSP00000465347.1:n.-99+33980del
NM_007294.3:c.4096+144del , LRG_292t1:c.4096+144del	NP_009225.1:n.4096+144del
NM_007297.3:c.3955+144del	NP_009228.2:n.3955+144del
NM_007298.3:c.788-259del	NP_009229.2:n.788-259del
NM_007299.3:c.788-259del	NP_009230.2:n.788-259del
NM_007300.3:c.4096+144del	NP_009231.2:n.4096+144del
NR_027676.1:n.4232+144del
NM_007294.4:c.4096+144del MANE Select	NP_009225.1:n.4096+144del
NM_007297.4:c.3955+144del	NP_009228.2:n.3955+144del
NM_007299.4:c.788-259del	NP_009230.2:n.788-259del
NM_007300.4:c.4096+144del	NP_009231.2:n.4096+144del
NR_027676.2:n.4273+144del