Canonical Allele Identifier: CA983876161

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43066836-A-ATTTT
• gnomAD v4: 17-43066836-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43066836_43066837insTTTT , CM000679.2:g.43066836_43066837insTTTT	GRCh38
NC_000017.10:g.41218853_41218854insTTTT , CM000679.1:g.41218853_41218854insTTTT	GRCh37
NC_000017.9:g.38472379_38472380insTTTT	NCBI36
NG_005905.2:g.151147_151148insAAAA , LRG_292:g.151147_151148insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+771_5071+772insAAAA	ENSP00000417241.2:n.5071+771_5071+772insAAAA
ENST00000470026.6:c.5074+771_5074+772insAAAA	ENSP00000419274.2:n.5074+771_5074+772insAAAA
ENST00000473961.6:c.4948+771_4948+772insAAAA	ENSP00000420201.2:n.4948+771_4948+772insAAAA
ENST00000476777.6:c.5068+771_5068+772insAAAA	ENSP00000417554.2:n.5068+771_5068+772insAAAA
ENST00000477152.6:c.4996+771_4996+772insAAAA	ENSP00000419988.2:n.4996+771_4996+772insAAAA
ENST00000478531.6:c.1762+771_1762+772insAAAA	ENSP00000420412.2:n.1762+771_1762+772insAAAA
ENST00000489037.2:c.4996+771_4996+772insAAAA	ENSP00000420781.2:n.4996+771_4996+772insAAAA
ENST00000493919.6:c.1624+771_1624+772insAAAA	ENSP00000418819.2:n.1624+771_1624+772insAAAA
ENST00000494123.6:c.5074+771_5074+772insAAAA	ENSP00000419103.2:n.5074+771_5074+772insAAAA
ENST00000497488.2:c.4186+771_4186+772insAAAA	ENSP00000418986.2:n.4186+771_4186+772insAAAA
ENST00000618469.2:c.5074+771_5074+772insAAAA	ENSP00000478114.2:n.5074+771_5074+772insAAAA
ENST00000634433.2:c.4951+771_4951+772insAAAA	ENSP00000489431.2:n.4951+771_4951+772insAAAA
ENST00000644379.2:c.5140+771_5140+772insAAAA	ENSP00000496570.2:n.5140+771_5140+772insAAAA
ENST00000644555.2:c.1624+771_1624+772insAAAA	ENSP00000494614.2:n.1624+771_1624+772insAAAA
ENST00000652672.2:c.4933+771_4933+772insAAAA	ENSP00000498906.2:n.4933+771_4933+772insAAAA
ENST00000484087.6:c.1636+771_1636+772insAAAA	ENSP00000419481.2:n.1636+771_1636+772insAAAA
ENST00000357654.9:c.5074+771_5074+772insAAAA MANE Select	ENSP00000350283.3:n.5074+771_5074+772insAAAA
ENST00000471181.7:c.5137+771_5137+772insAAAA	ENSP00000418960.2:n.5137+771_5137+772insAAAA
ENST00000644379.1:c.1461+771_1461+772insAAAA
ENST00000352993.7:c.1648+771_1648+772insAAAA	ENSP00000312236.5:n.1648+771_1648+772insAAAA
ENST00000357654.7:c.5074+771_5074+772insAAAA	ENSP00000350283.3:n.5074+771_5074+772insAAAA
ENST00000461221.5:c.*4857+771_*4857+772insAAAA	ENSP00000418548.1:n.*4857+771_*4857+772insAAAA
ENST00000468300.5:c.1762+771_1762+772insAAAA	ENSP00000417148.1:n.1762+771_1762+772insAAAA
ENST00000471181.6:c.5137+771_5137+772insAAAA	ENSP00000418960.2:n.5137+771_5137+772insAAAA
ENST00000478531.5:c.1762+771_1762+772insAAAA	ENSP00000420412.1:n.1762+771_1762+772insAAAA
ENST00000484087.5:c.1387+771_1387+772insAAAA	ENSP00000419481.1:n.1387+771_1387+772insAAAA
ENST00000491747.6:c.1762+771_1762+772insAAAA	ENSP00000420705.2:n.1762+771_1762+772insAAAA
ENST00000493795.5:c.4933+771_4933+772insAAAA	ENSP00000418775.1:n.4933+771_4933+772insAAAA
ENST00000493919.5:c.1624+771_1624+772insAAAA	ENSP00000418819.1:n.1624+771_1624+772insAAAA
ENST00000586385.5:c.5-2886_5-2885insAAAA	ENSP00000465818.1:n.5-2886_5-2885insAAAA
ENST00000591534.5:c.547+771_547+772insAAAA	ENSP00000467329.1:n.547+771_547+772insAAAA
ENST00000591849.5:c.-98-16647_-98-16646insAAAA	ENSP00000465347.1:n.-98-16647_-98-16646insAAAA
NM_007294.3:c.5074+771_5074+772insAAAA , LRG_292t1:c.5074+771_5074+772insAAAA	NP_009225.1:n.5074+771_5074+772insAAAA
NM_007297.3:c.4933+771_4933+772insAAAA	NP_009228.2:n.4933+771_4933+772insAAAA
NM_007298.3:c.1762+771_1762+772insAAAA	NP_009229.2:n.1762+771_1762+772insAAAA
NM_007299.3:c.1762+771_1762+772insAAAA	NP_009230.2:n.1762+771_1762+772insAAAA
NM_007300.3:c.5137+771_5137+772insAAAA	NP_009231.2:n.5137+771_5137+772insAAAA
NR_027676.1:n.5210+771_5210+772insAAAA
NM_007294.4:c.5074+771_5074+772insAAAA MANE Select	NP_009225.1:n.5074+771_5074+772insAAAA
NM_007297.4:c.4933+771_4933+772insAAAA	NP_009228.2:n.4933+771_4933+772insAAAA
NM_007299.4:c.1762+771_1762+772insAAAA	NP_009230.2:n.1762+771_1762+772insAAAA
NM_007300.4:c.5137+771_5137+772insAAAA	NP_009231.2:n.5137+771_5137+772insAAAA
NR_027676.2:n.5251+771_5251+772insAAAA