Canonical Allele Identifier: CA2638061990

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43067496-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067496_43067497insAC , CM000679.2:g.43067496_43067497insAC	GRCh38
NC_000017.10:g.41219513_41219514insAC , CM000679.1:g.41219513_41219514insAC	GRCh37
NC_000017.9:g.38473039_38473040insAC	NCBI36
NG_005905.2:g.150487_150488insGT , LRG_292:g.150487_150488insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+111_5071+112insGT	ENSP00000417241.2:n.5071+111_5071+112insGT
ENST00000470026.6:c.5074+111_5074+112insGT	ENSP00000419274.2:n.5074+111_5074+112insGT
ENST00000473961.6:c.4948+111_4948+112insGT	ENSP00000420201.2:n.4948+111_4948+112insGT
ENST00000476777.6:c.5068+111_5068+112insGT	ENSP00000417554.2:n.5068+111_5068+112insGT
ENST00000477152.6:c.4996+111_4996+112insGT	ENSP00000419988.2:n.4996+111_4996+112insGT
ENST00000478531.6:c.1762+111_1762+112insGT	ENSP00000420412.2:n.1762+111_1762+112insGT
ENST00000489037.2:c.4996+111_4996+112insGT	ENSP00000420781.2:n.4996+111_4996+112insGT
ENST00000493919.6:c.1624+111_1624+112insGT	ENSP00000418819.2:n.1624+111_1624+112insGT
ENST00000494123.6:c.5074+111_5074+112insGT	ENSP00000419103.2:n.5074+111_5074+112insGT
ENST00000497488.2:c.4186+111_4186+112insGT	ENSP00000418986.2:n.4186+111_4186+112insGT
ENST00000618469.2:c.5074+111_5074+112insGT	ENSP00000478114.2:n.5074+111_5074+112insGT
ENST00000634433.2:c.4951+111_4951+112insGT	ENSP00000489431.2:n.4951+111_4951+112insGT
ENST00000644379.2:c.5140+111_5140+112insGT	ENSP00000496570.2:n.5140+111_5140+112insGT
ENST00000644555.2:c.1624+111_1624+112insGT	ENSP00000494614.2:n.1624+111_1624+112insGT
ENST00000652672.2:c.4933+111_4933+112insGT	ENSP00000498906.2:n.4933+111_4933+112insGT
ENST00000484087.6:c.1636+111_1636+112insGT	ENSP00000419481.2:n.1636+111_1636+112insGT
ENST00000357654.9:c.5074+111_5074+112insGT MANE Select	ENSP00000350283.3:n.5074+111_5074+112insGT
ENST00000471181.7:c.5137+111_5137+112insGT	ENSP00000418960.2:n.5137+111_5137+112insGT
ENST00000644379.1:c.1461+111_1461+112insGT
ENST00000352993.7:c.1648+111_1648+112insGT	ENSP00000312236.5:n.1648+111_1648+112insGT
ENST00000357654.7:c.5074+111_5074+112insGT	ENSP00000350283.3:n.5074+111_5074+112insGT
ENST00000461221.5:c.*4857+111_*4857+112insGT	ENSP00000418548.1:n.*4857+111_*4857+112insGT
ENST00000468300.5:c.1762+111_1762+112insGT	ENSP00000417148.1:n.1762+111_1762+112insGT
ENST00000471181.6:c.5137+111_5137+112insGT	ENSP00000418960.2:n.5137+111_5137+112insGT
ENST00000472490.1:n.338_339insGT
ENST00000478531.5:c.1762+111_1762+112insGT	ENSP00000420412.1:n.1762+111_1762+112insGT
ENST00000484087.5:c.1387+111_1387+112insGT	ENSP00000419481.1:n.1387+111_1387+112insGT
ENST00000491747.6:c.1762+111_1762+112insGT	ENSP00000420705.2:n.1762+111_1762+112insGT
ENST00000493795.5:c.4933+111_4933+112insGT	ENSP00000418775.1:n.4933+111_4933+112insGT
ENST00000493919.5:c.1624+111_1624+112insGT	ENSP00000418819.1:n.1624+111_1624+112insGT
ENST00000586385.5:c.5-3546_5-3545insGT	ENSP00000465818.1:n.5-3546_5-3545insGT
ENST00000591534.5:c.547+111_547+112insGT	ENSP00000467329.1:n.547+111_547+112insGT
ENST00000591849.5:c.-98-17307_-98-17306insGT	ENSP00000465347.1:n.-98-17307_-98-17306insGT
NM_007294.3:c.5074+111_5074+112insGT , LRG_292t1:c.5074+111_5074+112insGT	NP_009225.1:n.5074+111_5074+112insGT
NM_007297.3:c.4933+111_4933+112insGT	NP_009228.2:n.4933+111_4933+112insGT
NM_007298.3:c.1762+111_1762+112insGT	NP_009229.2:n.1762+111_1762+112insGT
NM_007299.3:c.1762+111_1762+112insGT	NP_009230.2:n.1762+111_1762+112insGT
NM_007300.3:c.5137+111_5137+112insGT	NP_009231.2:n.5137+111_5137+112insGT
NR_027676.1:n.5210+111_5210+112insGT
NM_007294.4:c.5074+111_5074+112insGT MANE Select	NP_009225.1:n.5074+111_5074+112insGT
NM_007297.4:c.4933+111_4933+112insGT	NP_009228.2:n.4933+111_4933+112insGT
NM_007299.4:c.1762+111_1762+112insGT	NP_009230.2:n.1762+111_1762+112insGT
NM_007300.4:c.5137+111_5137+112insGT	NP_009231.2:n.5137+111_5137+112insGT
NR_027676.2:n.5251+111_5251+112insGT