Canonical Allele Identifier: CA983869862

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43052887-T-TA
• gnomAD v4: 17-43052887-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43052887_43052888insA , CM000679.2:g.43052887_43052888insA	GRCh38
NC_000017.10:g.41204904_41204905insA , CM000679.1:g.41204904_41204905insA	GRCh37
NC_000017.9:g.38458430_38458431insA	NCBI36
NG_005905.2:g.165096_165097insT , LRG_292:g.165096_165097insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5275-1771_5275-1770insT	ENSP00000417241.2:n.5275-1771_5275-1770insT
ENST00000470026.6:c.5278-1771_5278-1770insT	ENSP00000419274.2:n.5278-1771_5278-1770insT
ENST00000473961.6:c.5152-1771_5152-1770insT	ENSP00000420201.2:n.5152-1771_5152-1770insT
ENST00000476777.6:c.5272-1771_5272-1770insT	ENSP00000417554.2:n.5272-1771_5272-1770insT
ENST00000477152.6:c.5200-1771_5200-1770insT	ENSP00000419988.2:n.5200-1771_5200-1770insT
ENST00000478531.6:c.1966-1771_1966-1770insT	ENSP00000420412.2:n.1966-1771_1966-1770insT
ENST00000489037.2:c.5200-1771_5200-1770insT	ENSP00000420781.2:n.5200-1771_5200-1770insT
ENST00000493919.6:c.1828-1771_1828-1770insT	ENSP00000418819.2:n.1828-1771_1828-1770insT
ENST00000494123.6:c.5278-1771_5278-1770insT	ENSP00000419103.2:n.5278-1771_5278-1770insT
ENST00000497488.2:c.4390-1771_4390-1770insT	ENSP00000418986.2:n.4390-1771_4390-1770insT
ENST00000618469.2:c.5278-1771_5278-1770insT	ENSP00000478114.2:n.5278-1771_5278-1770insT
ENST00000634433.2:c.5155-1771_5155-1770insT	ENSP00000489431.2:n.5155-1771_5155-1770insT
ENST00000644379.2:c.5344-1771_5344-1770insT	ENSP00000496570.2:n.5344-1771_5344-1770insT
ENST00000644555.2:c.1828-1771_1828-1770insT	ENSP00000494614.2:n.1828-1771_1828-1770insT
ENST00000652672.2:c.5137-1771_5137-1770insT	ENSP00000498906.2:n.5137-1771_5137-1770insT
ENST00000484087.6:c.1840-1771_1840-1770insT	ENSP00000419481.2:n.1840-1771_1840-1770insT
ENST00000357654.9:c.5278-1771_5278-1770insT MANE Select	ENSP00000350283.3:n.5278-1771_5278-1770insT
ENST00000471181.7:c.5341-1771_5341-1770insT	ENSP00000418960.2:n.5341-1771_5341-1770insT
ENST00000644379.1:c.1665-1771_1665-1770insT
ENST00000352993.7:c.1852-1771_1852-1770insT	ENSP00000312236.5:n.1852-1771_1852-1770insT
ENST00000357654.7:c.5278-1771_5278-1770insT	ENSP00000350283.3:n.5278-1771_5278-1770insT
ENST00000461221.5:c.*5061-1771_*5061-1770insT	ENSP00000418548.1:n.*5061-1771_*5061-1770insT
ENST00000468300.5:c.1966-1771_1966-1770insT	ENSP00000417148.1:n.1966-1771_1966-1770insT
ENST00000471181.6:c.5341-1771_5341-1770insT	ENSP00000418960.2:n.5341-1771_5341-1770insT
ENST00000491747.6:c.1966-1771_1966-1770insT	ENSP00000420705.2:n.1966-1771_1966-1770insT
ENST00000493795.5:c.5137-1771_5137-1770insT	ENSP00000418775.1:n.5137-1771_5137-1770insT
ENST00000586385.5:c.208-1771_208-1770insT	ENSP00000465818.1:n.208-1771_208-1770insT
ENST00000591534.5:c.751-1771_751-1770insT	ENSP00000467329.1:n.751-1771_751-1770insT
ENST00000591849.5:c.-98-2698_-98-2697insT	ENSP00000465347.1:n.-98-2698_-98-2697insT
NM_007294.3:c.5278-1771_5278-1770insT , LRG_292t1:c.5278-1771_5278-1770insT	NP_009225.1:n.5278-1771_5278-1770insT
NM_007297.3:c.5137-1771_5137-1770insT	NP_009228.2:n.5137-1771_5137-1770insT
NM_007298.3:c.1966-1771_1966-1770insT	NP_009229.2:n.1966-1771_1966-1770insT
NM_007299.3:c.1966-1771_1966-1770insT	NP_009230.2:n.1966-1771_1966-1770insT
NM_007300.3:c.5341-1771_5341-1770insT	NP_009231.2:n.5341-1771_5341-1770insT
NR_027676.1:n.5414-1771_5414-1770insT
NM_007294.4:c.5278-1771_5278-1770insT MANE Select	NP_009225.1:n.5278-1771_5278-1770insT
NM_007297.4:c.5137-1771_5137-1770insT	NP_009228.2:n.5137-1771_5137-1770insT
NM_007299.4:c.1966-1771_1966-1770insT	NP_009230.2:n.1966-1771_1966-1770insT
NM_007300.4:c.5341-1771_5341-1770insT	NP_009231.2:n.5341-1771_5341-1770insT
NR_027676.2:n.5455-1771_5455-1770insT