Canonical Allele Identifier: CA983875935

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43066767-G-GTCGCCGT
• gnomAD v4: 17-43066767-G-GTCGCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43066767_43066768insTCGCCGT , CM000679.2:g.43066767_43066768insTCGCCGT	GRCh38
NC_000017.10:g.41218784_41218785insTCGCCGT , CM000679.1:g.41218784_41218785insTCGCCGT	GRCh37
NC_000017.9:g.38472310_38472311insTCGCCGT	NCBI36
NG_005905.2:g.151216_151217insACGGCGA , LRG_292:g.151216_151217insACGGCGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5071+840_5071+841insACGGCGA	ENSP00000417241.2:n.5071+840_5071+841insACGGCGA
ENST00000470026.6:c.5074+840_5074+841insACGGCGA	ENSP00000419274.2:n.5074+840_5074+841insACGGCGA
ENST00000473961.6:c.4948+840_4948+841insACGGCGA	ENSP00000420201.2:n.4948+840_4948+841insACGGCGA
ENST00000476777.6:c.5068+840_5068+841insACGGCGA	ENSP00000417554.2:n.5068+840_5068+841insACGGCGA
ENST00000477152.6:c.4996+840_4996+841insACGGCGA	ENSP00000419988.2:n.4996+840_4996+841insACGGCGA
ENST00000478531.6:c.1762+840_1762+841insACGGCGA	ENSP00000420412.2:n.1762+840_1762+841insACGGCGA
ENST00000489037.2:c.4996+840_4996+841insACGGCGA	ENSP00000420781.2:n.4996+840_4996+841insACGGCGA
ENST00000493919.6:c.1624+840_1624+841insACGGCGA	ENSP00000418819.2:n.1624+840_1624+841insACGGCGA
ENST00000494123.6:c.5074+840_5074+841insACGGCGA	ENSP00000419103.2:n.5074+840_5074+841insACGGCGA
ENST00000497488.2:c.4186+840_4186+841insACGGCGA	ENSP00000418986.2:n.4186+840_4186+841insACGGCGA
ENST00000618469.2:c.5074+840_5074+841insACGGCGA	ENSP00000478114.2:n.5074+840_5074+841insACGGCGA
ENST00000634433.2:c.4951+840_4951+841insACGGCGA	ENSP00000489431.2:n.4951+840_4951+841insACGGCGA
ENST00000644379.2:c.5140+840_5140+841insACGGCGA	ENSP00000496570.2:n.5140+840_5140+841insACGGCGA
ENST00000644555.2:c.1624+840_1624+841insACGGCGA	ENSP00000494614.2:n.1624+840_1624+841insACGGCGA
ENST00000652672.2:c.4933+840_4933+841insACGGCGA	ENSP00000498906.2:n.4933+840_4933+841insACGGCGA
ENST00000484087.6:c.1636+840_1636+841insACGGCGA	ENSP00000419481.2:n.1636+840_1636+841insACGGCGA
ENST00000357654.9:c.5074+840_5074+841insACGGCGA MANE Select	ENSP00000350283.3:n.5074+840_5074+841insACGGCGA
ENST00000471181.7:c.5137+840_5137+841insACGGCGA	ENSP00000418960.2:n.5137+840_5137+841insACGGCGA
ENST00000644379.1:c.1461+840_1461+841insACGGCGA
ENST00000352993.7:c.1648+840_1648+841insACGGCGA	ENSP00000312236.5:n.1648+840_1648+841insACGGCGA
ENST00000357654.7:c.5074+840_5074+841insACGGCGA	ENSP00000350283.3:n.5074+840_5074+841insACGGCGA
ENST00000461221.5:c.*4857+840_*4857+841insACGGCGA	ENSP00000418548.1:n.*4857+840_*4857+841insACGGCGA
ENST00000468300.5:c.1762+840_1762+841insACGGCGA	ENSP00000417148.1:n.1762+840_1762+841insACGGCGA
ENST00000471181.6:c.5137+840_5137+841insACGGCGA	ENSP00000418960.2:n.5137+840_5137+841insACGGCGA
ENST00000478531.5:c.1762+840_1762+841insACGGCGA	ENSP00000420412.1:n.1762+840_1762+841insACGGCGA
ENST00000484087.5:c.1387+840_1387+841insACGGCGA	ENSP00000419481.1:n.1387+840_1387+841insACGGCGA
ENST00000491747.6:c.1762+840_1762+841insACGGCGA	ENSP00000420705.2:n.1762+840_1762+841insACGGCGA
ENST00000493795.5:c.4933+840_4933+841insACGGCGA	ENSP00000418775.1:n.4933+840_4933+841insACGGCGA
ENST00000493919.5:c.1624+840_1624+841insACGGCGA	ENSP00000418819.1:n.1624+840_1624+841insACGGCGA
ENST00000586385.5:c.5-2817_5-2816insACGGCGA	ENSP00000465818.1:n.5-2817_5-2816insACGGCGA
ENST00000591534.5:c.547+840_547+841insACGGCGA	ENSP00000467329.1:n.547+840_547+841insACGGCGA
ENST00000591849.5:c.-98-16578_-98-16577insACGGCGA	ENSP00000465347.1:n.-98-16578_-98-16577insACGGCGA
NM_007294.3:c.5074+840_5074+841insACGGCGA , LRG_292t1:c.5074+840_5074+841insACGGCGA	NP_009225.1:n.5074+840_5074+841insACGGCGA
NM_007297.3:c.4933+840_4933+841insACGGCGA	NP_009228.2:n.4933+840_4933+841insACGGCGA
NM_007298.3:c.1762+840_1762+841insACGGCGA	NP_009229.2:n.1762+840_1762+841insACGGCGA
NM_007299.3:c.1762+840_1762+841insACGGCGA	NP_009230.2:n.1762+840_1762+841insACGGCGA
NM_007300.3:c.5137+840_5137+841insACGGCGA	NP_009231.2:n.5137+840_5137+841insACGGCGA
NR_027676.1:n.5210+840_5210+841insACGGCGA
NM_007294.4:c.5074+840_5074+841insACGGCGA MANE Select	NP_009225.1:n.5074+840_5074+841insACGGCGA
NM_007297.4:c.4933+840_4933+841insACGGCGA	NP_009228.2:n.4933+840_4933+841insACGGCGA
NM_007299.4:c.1762+840_1762+841insACGGCGA	NP_009230.2:n.1762+840_1762+841insACGGCGA
NM_007300.4:c.5137+840_5137+841insACGGCGA	NP_009231.2:n.5137+840_5137+841insACGGCGA
NR_027676.2:n.5251+840_5251+841insACGGCGA