Canonical Allele Identifier: CA983870764

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43054765-TGAAG-T
• gnomAD v4: 17-43054765-TGAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43054766_43054769del , CM000679.2:g.43054766_43054769del	GRCh38
NC_000017.10:g.41206783_41206786del , CM000679.1:g.41206783_41206786del	GRCh37
NC_000017.9:g.38460309_38460312del	NCBI36
NG_005905.2:g.163215_163218del , LRG_292:g.163215_163218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5274+2283_5274+2286del	ENSP00000417241.2:n.5274+2283_5274+2286del
ENST00000470026.6:c.5277+2283_5277+2286del	ENSP00000419274.2:n.5277+2283_5277+2286del
ENST00000473961.6:c.5151+2283_5151+2286del	ENSP00000420201.2:n.5151+2283_5151+2286del
ENST00000476777.6:c.5271+2283_5271+2286del	ENSP00000417554.2:n.5271+2283_5271+2286del
ENST00000477152.6:c.5199+2283_5199+2286del	ENSP00000419988.2:n.5199+2283_5199+2286del
ENST00000478531.6:c.1965+2283_1965+2286del	ENSP00000420412.2:n.1965+2283_1965+2286del
ENST00000489037.2:c.5199+2283_5199+2286del	ENSP00000420781.2:n.5199+2283_5199+2286del
ENST00000493919.6:c.1827+2283_1827+2286del	ENSP00000418819.2:n.1827+2283_1827+2286del
ENST00000494123.6:c.5277+2283_5277+2286del	ENSP00000419103.2:n.5277+2283_5277+2286del
ENST00000497488.2:c.4389+2283_4389+2286del	ENSP00000418986.2:n.4389+2283_4389+2286del
ENST00000618469.2:c.5277+2283_5277+2286del	ENSP00000478114.2:n.5277+2283_5277+2286del
ENST00000634433.2:c.5154+2283_5154+2286del	ENSP00000489431.2:n.5154+2283_5154+2286del
ENST00000644379.2:c.5343+2283_5343+2286del	ENSP00000496570.2:n.5343+2283_5343+2286del
ENST00000644555.2:c.1827+2283_1827+2286del	ENSP00000494614.2:n.1827+2283_1827+2286del
ENST00000652672.2:c.5136+2283_5136+2286del	ENSP00000498906.2:n.5136+2283_5136+2286del
ENST00000484087.6:c.1839+2283_1839+2286del	ENSP00000419481.2:n.1839+2283_1839+2286del
ENST00000357654.9:c.5277+2283_5277+2286del MANE Select	ENSP00000350283.3:n.5277+2283_5277+2286del
ENST00000471181.7:c.5340+2283_5340+2286del	ENSP00000418960.2:n.5340+2283_5340+2286del
ENST00000644379.1:c.1664+2283_1664+2286del
ENST00000352993.7:c.1851+2283_1851+2286del	ENSP00000312236.5:n.1851+2283_1851+2286del
ENST00000357654.7:c.5277+2283_5277+2286del	ENSP00000350283.3:n.5277+2283_5277+2286del
ENST00000461221.5:c.*5060+2283_*5060+2286del	ENSP00000418548.1:n.*5060+2283_*5060+2286del
ENST00000468300.5:c.1965+2283_1965+2286del	ENSP00000417148.1:n.1965+2283_1965+2286del
ENST00000471181.6:c.5340+2283_5340+2286del	ENSP00000418960.2:n.5340+2283_5340+2286del
ENST00000491747.6:c.1965+2283_1965+2286del	ENSP00000420705.2:n.1965+2283_1965+2286del
ENST00000493795.5:c.5136+2283_5136+2286del	ENSP00000418775.1:n.5136+2283_5136+2286del
ENST00000586385.5:c.207+2283_207+2286del	ENSP00000465818.1:n.207+2283_207+2286del
ENST00000591534.5:c.750+2283_750+2286del	ENSP00000467329.1:n.750+2283_750+2286del
ENST00000591849.5:c.-98-4579_-98-4576del	ENSP00000465347.1:n.-98-4579_-98-4576del
NM_007294.3:c.5277+2283_5277+2286del , LRG_292t1:c.5277+2283_5277+2286del	NP_009225.1:n.5277+2283_5277+2286del
NM_007297.3:c.5136+2283_5136+2286del	NP_009228.2:n.5136+2283_5136+2286del
NM_007298.3:c.1965+2283_1965+2286del	NP_009229.2:n.1965+2283_1965+2286del
NM_007299.3:c.1965+2283_1965+2286del	NP_009230.2:n.1965+2283_1965+2286del
NM_007300.3:c.5340+2283_5340+2286del	NP_009231.2:n.5340+2283_5340+2286del
NR_027676.1:n.5413+2283_5413+2286del
NM_007294.4:c.5277+2283_5277+2286del MANE Select	NP_009225.1:n.5277+2283_5277+2286del
NM_007297.4:c.5136+2283_5136+2286del	NP_009228.2:n.5136+2283_5136+2286del
NM_007299.4:c.1965+2283_1965+2286del	NP_009230.2:n.1965+2283_1965+2286del
NM_007300.4:c.5340+2283_5340+2286del	NP_009231.2:n.5340+2283_5340+2286del
NR_027676.2:n.5454+2283_5454+2286del