Canonical Allele Identifier: CA2638061147

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43056912-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43056915_43056917del , CM000679.2:g.43056915_43056917del	GRCh38
NC_000017.10:g.41208932_41208934del , CM000679.1:g.41208932_41208934del	GRCh37
NC_000017.9:g.38462458_38462460del	NCBI36
NG_005905.2:g.161069_161071del , LRG_292:g.161069_161071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5274+137_5274+139del	ENSP00000417241.2:n.5274+137_5274+139del
ENST00000470026.6:c.5277+137_5277+139del	ENSP00000419274.2:n.5277+137_5277+139del
ENST00000473961.6:c.5151+137_5151+139del	ENSP00000420201.2:n.5151+137_5151+139del
ENST00000476777.6:c.5271+137_5271+139del	ENSP00000417554.2:n.5271+137_5271+139del
ENST00000477152.6:c.5199+137_5199+139del	ENSP00000419988.2:n.5199+137_5199+139del
ENST00000478531.6:c.1965+137_1965+139del	ENSP00000420412.2:n.1965+137_1965+139del
ENST00000489037.2:c.5199+137_5199+139del	ENSP00000420781.2:n.5199+137_5199+139del
ENST00000493919.6:c.1827+137_1827+139del	ENSP00000418819.2:n.1827+137_1827+139del
ENST00000494123.6:c.5277+137_5277+139del	ENSP00000419103.2:n.5277+137_5277+139del
ENST00000497488.2:c.4389+137_4389+139del	ENSP00000418986.2:n.4389+137_4389+139del
ENST00000618469.2:c.5277+137_5277+139del	ENSP00000478114.2:n.5277+137_5277+139del
ENST00000634433.2:c.5154+137_5154+139del	ENSP00000489431.2:n.5154+137_5154+139del
ENST00000644379.2:c.5343+137_5343+139del	ENSP00000496570.2:n.5343+137_5343+139del
ENST00000644555.2:c.1827+137_1827+139del	ENSP00000494614.2:n.1827+137_1827+139del
ENST00000652672.2:c.5136+137_5136+139del	ENSP00000498906.2:n.5136+137_5136+139del
ENST00000484087.6:c.1839+137_1839+139del	ENSP00000419481.2:n.1839+137_1839+139del
ENST00000357654.9:c.5277+137_5277+139del MANE Select	ENSP00000350283.3:n.5277+137_5277+139del
ENST00000471181.7:c.5340+137_5340+139del	ENSP00000418960.2:n.5340+137_5340+139del
ENST00000644379.1:c.1664+137_1664+139del
ENST00000352993.7:c.1851+137_1851+139del	ENSP00000312236.5:n.1851+137_1851+139del
ENST00000357654.7:c.5277+137_5277+139del	ENSP00000350283.3:n.5277+137_5277+139del
ENST00000461221.5:c.*5060+137_*5060+139del	ENSP00000418548.1:n.*5060+137_*5060+139del
ENST00000468300.5:c.1965+137_1965+139del	ENSP00000417148.1:n.1965+137_1965+139del
ENST00000471181.6:c.5340+137_5340+139del	ENSP00000418960.2:n.5340+137_5340+139del
ENST00000491747.6:c.1965+137_1965+139del	ENSP00000420705.2:n.1965+137_1965+139del
ENST00000493795.5:c.5136+137_5136+139del	ENSP00000418775.1:n.5136+137_5136+139del
ENST00000586385.5:c.207+137_207+139del	ENSP00000465818.1:n.207+137_207+139del
ENST00000591534.5:c.750+137_750+139del	ENSP00000467329.1:n.750+137_750+139del
ENST00000591849.5:c.-98-6725_-98-6723del	ENSP00000465347.1:n.-98-6725_-98-6723del
NM_007294.3:c.5277+137_5277+139del , LRG_292t1:c.5277+137_5277+139del	NP_009225.1:n.5277+137_5277+139del
NM_007297.3:c.5136+137_5136+139del	NP_009228.2:n.5136+137_5136+139del
NM_007298.3:c.1965+137_1965+139del	NP_009229.2:n.1965+137_1965+139del
NM_007299.3:c.1965+137_1965+139del	NP_009230.2:n.1965+137_1965+139del
NM_007300.3:c.5340+137_5340+139del	NP_009231.2:n.5340+137_5340+139del
NR_027676.1:n.5413+137_5413+139del
NM_007294.4:c.5277+137_5277+139del MANE Select	NP_009225.1:n.5277+137_5277+139del
NM_007297.4:c.5136+137_5136+139del	NP_009228.2:n.5136+137_5136+139del
NM_007299.4:c.1965+137_1965+139del	NP_009230.2:n.1965+137_1965+139del
NM_007300.4:c.5340+137_5340+139del	NP_009231.2:n.5340+137_5340+139del
NR_027676.2:n.5454+137_5454+139del