Canonical Allele Identifier: CA983875133

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43064851-G-GTT
• gnomAD v4: 17-43064851-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064851_43064852insTT , CM000679.2:g.43064851_43064852insTT	GRCh38
NC_000017.10:g.41216868_41216869insTT , CM000679.1:g.41216868_41216869insTT	GRCh37
NC_000017.9:g.38470394_38470395insTT	NCBI36
NG_005905.2:g.153132_153133insAA , LRG_292:g.153132_153133insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-901_5072-900insAA	ENSP00000417241.2:n.5072-901_5072-900insAA
ENST00000470026.6:c.5075-901_5075-900insAA	ENSP00000419274.2:n.5075-901_5075-900insAA
ENST00000473961.6:c.4949-901_4949-900insAA	ENSP00000420201.2:n.4949-901_4949-900insAA
ENST00000476777.6:c.5069-901_5069-900insAA	ENSP00000417554.2:n.5069-901_5069-900insAA
ENST00000477152.6:c.4997-901_4997-900insAA	ENSP00000419988.2:n.4997-901_4997-900insAA
ENST00000478531.6:c.1763-901_1763-900insAA	ENSP00000420412.2:n.1763-901_1763-900insAA
ENST00000489037.2:c.4997-901_4997-900insAA	ENSP00000420781.2:n.4997-901_4997-900insAA
ENST00000493919.6:c.1625-901_1625-900insAA	ENSP00000418819.2:n.1625-901_1625-900insAA
ENST00000494123.6:c.5075-901_5075-900insAA	ENSP00000419103.2:n.5075-901_5075-900insAA
ENST00000497488.2:c.4187-901_4187-900insAA	ENSP00000418986.2:n.4187-901_4187-900insAA
ENST00000618469.2:c.5075-901_5075-900insAA	ENSP00000478114.2:n.5075-901_5075-900insAA
ENST00000634433.2:c.4952-901_4952-900insAA	ENSP00000489431.2:n.4952-901_4952-900insAA
ENST00000644379.2:c.5141-901_5141-900insAA	ENSP00000496570.2:n.5141-901_5141-900insAA
ENST00000644555.2:c.1625-901_1625-900insAA	ENSP00000494614.2:n.1625-901_1625-900insAA
ENST00000652672.2:c.4934-901_4934-900insAA	ENSP00000498906.2:n.4934-901_4934-900insAA
ENST00000484087.6:c.1637-901_1637-900insAA	ENSP00000419481.2:n.1637-901_1637-900insAA
ENST00000357654.9:c.5075-901_5075-900insAA MANE Select	ENSP00000350283.3:n.5075-901_5075-900insAA
ENST00000471181.7:c.5138-901_5138-900insAA	ENSP00000418960.2:n.5138-901_5138-900insAA
ENST00000644379.1:c.1462-901_1462-900insAA
ENST00000352993.7:c.1649-901_1649-900insAA	ENSP00000312236.5:n.1649-901_1649-900insAA
ENST00000357654.7:c.5075-901_5075-900insAA	ENSP00000350283.3:n.5075-901_5075-900insAA
ENST00000461221.5:c.*4858-901_*4858-900insAA	ENSP00000418548.1:n.*4858-901_*4858-900insAA
ENST00000468300.5:c.1763-901_1763-900insAA	ENSP00000417148.1:n.1763-901_1763-900insAA
ENST00000471181.6:c.5138-901_5138-900insAA	ENSP00000418960.2:n.5138-901_5138-900insAA
ENST00000478531.5:c.1763-901_1763-900insAA	ENSP00000420412.1:n.1763-901_1763-900insAA
ENST00000484087.5:c.1388-901_1388-900insAA	ENSP00000419481.1:n.1388-901_1388-900insAA
ENST00000491747.6:c.1763-901_1763-900insAA	ENSP00000420705.2:n.1763-901_1763-900insAA
ENST00000493795.5:c.4934-901_4934-900insAA	ENSP00000418775.1:n.4934-901_4934-900insAA
ENST00000493919.5:c.1625-901_1625-900insAA	ENSP00000418819.1:n.1625-901_1625-900insAA
ENST00000586385.5:c.5-901_5-900insAA	ENSP00000465818.1:n.5-901_5-900insAA
ENST00000591534.5:c.548-901_548-900insAA	ENSP00000467329.1:n.548-901_548-900insAA
ENST00000591849.5:c.-98-14662_-98-14661insAA	ENSP00000465347.1:n.-98-14662_-98-14661insAA
NM_007294.3:c.5075-901_5075-900insAA , LRG_292t1:c.5075-901_5075-900insAA	NP_009225.1:n.5075-901_5075-900insAA
NM_007297.3:c.4934-901_4934-900insAA	NP_009228.2:n.4934-901_4934-900insAA
NM_007298.3:c.1763-901_1763-900insAA	NP_009229.2:n.1763-901_1763-900insAA
NM_007299.3:c.1763-901_1763-900insAA	NP_009230.2:n.1763-901_1763-900insAA
NM_007300.3:c.5138-901_5138-900insAA	NP_009231.2:n.5138-901_5138-900insAA
NR_027676.1:n.5211-901_5211-900insAA
NM_007294.4:c.5075-901_5075-900insAA MANE Select	NP_009225.1:n.5075-901_5075-900insAA
NM_007297.4:c.4934-901_4934-900insAA	NP_009228.2:n.4934-901_4934-900insAA
NM_007299.4:c.1763-901_1763-900insAA	NP_009230.2:n.1763-901_1763-900insAA
NM_007300.4:c.5138-901_5138-900insAA	NP_009231.2:n.5138-901_5138-900insAA
NR_027676.2:n.5252-901_5252-900insAA