Canonical Allele Identifier: CA2638062266

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43070841-GTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070845_43070847del , CM000679.2:g.43070845_43070847del	GRCh38
NC_000017.10:g.41222862_41222864del , CM000679.1:g.41222862_41222864del	GRCh37
NC_000017.9:g.38476388_38476390del	NCBI36
NG_005905.2:g.147140_147142del , LRG_292:g.147140_147142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4983+84_4983+86del	ENSP00000417241.2:n.4983+84_4983+86del
ENST00000470026.6:c.4986+84_4986+86del	ENSP00000419274.2:n.4986+84_4986+86del
ENST00000473961.6:c.4860+84_4860+86del	ENSP00000420201.2:n.4860+84_4860+86del
ENST00000476777.6:c.4980+84_4980+86del	ENSP00000417554.2:n.4980+84_4980+86del
ENST00000477152.6:c.4908+84_4908+86del	ENSP00000419988.2:n.4908+84_4908+86del
ENST00000478531.6:c.1674+84_1674+86del	ENSP00000420412.2:n.1674+84_1674+86del
ENST00000489037.2:c.4908+84_4908+86del	ENSP00000420781.2:n.4908+84_4908+86del
ENST00000493919.6:c.1536+84_1536+86del	ENSP00000418819.2:n.1536+84_1536+86del
ENST00000494123.6:c.4986+84_4986+86del	ENSP00000419103.2:n.4986+84_4986+86del
ENST00000497488.2:c.4098+84_4098+86del	ENSP00000418986.2:n.4098+84_4098+86del
ENST00000618469.2:c.4986+84_4986+86del	ENSP00000478114.2:n.4986+84_4986+86del
ENST00000634433.2:c.4863+84_4863+86del	ENSP00000489431.2:n.4863+84_4863+86del
ENST00000644379.2:c.5052+84_5052+86del	ENSP00000496570.2:n.5052+84_5052+86del
ENST00000644555.2:c.1536+84_1536+86del	ENSP00000494614.2:n.1536+84_1536+86del
ENST00000652672.2:c.4845+84_4845+86del	ENSP00000498906.2:n.4845+84_4845+86del
ENST00000484087.6:c.1548+84_1548+86del	ENSP00000419481.2:n.1548+84_1548+86del
ENST00000700182.1:c.*42_*44del	ENSP00000514849.1:n.*42_*44del
ENST00000357654.9:c.4986+84_4986+86del MANE Select	ENSP00000350283.3:n.4986+84_4986+86del
ENST00000471181.7:c.5049+84_5049+86del	ENSP00000418960.2:n.5049+84_5049+86del
ENST00000644379.1:c.1373+84_1373+86del
ENST00000352993.7:c.1560+84_1560+86del	ENSP00000312236.5:n.1560+84_1560+86del
ENST00000357654.7:c.4986+84_4986+86del	ENSP00000350283.3:n.4986+84_4986+86del
ENST00000461221.5:c.*4769+84_*4769+86del	ENSP00000418548.1:n.*4769+84_*4769+86del
ENST00000468300.5:c.1674+84_1674+86del	ENSP00000417148.1:n.1674+84_1674+86del
ENST00000471181.6:c.5049+84_5049+86del	ENSP00000418960.2:n.5049+84_5049+86del
ENST00000472490.1:n.139+84_139+86del
ENST00000478531.5:c.1674+84_1674+86del	ENSP00000420412.1:n.1674+84_1674+86del
ENST00000484087.5:c.1299+84_1299+86del	ENSP00000419481.1:n.1299+84_1299+86del
ENST00000491747.6:c.1674+84_1674+86del	ENSP00000420705.2:n.1674+84_1674+86del
ENST00000493795.5:c.4845+84_4845+86del	ENSP00000418775.1:n.4845+84_4845+86del
ENST00000493919.5:c.1536+84_1536+86del	ENSP00000418819.1:n.1536+84_1536+86del
ENST00000586385.5:c.5-6893_5-6891del	ENSP00000465818.1:n.5-6893_5-6891del
ENST00000591534.5:c.459+84_459+86del	ENSP00000467329.1:n.459+84_459+86del
ENST00000591849.5:c.-98-20654_-98-20652del	ENSP00000465347.1:n.-98-20654_-98-20652del
NM_007294.3:c.4986+84_4986+86del , LRG_292t1:c.4986+84_4986+86del	NP_009225.1:n.4986+84_4986+86del
NM_007297.3:c.4845+84_4845+86del	NP_009228.2:n.4845+84_4845+86del
NM_007298.3:c.1674+84_1674+86del	NP_009229.2:n.1674+84_1674+86del
NM_007299.3:c.1674+84_1674+86del	NP_009230.2:n.1674+84_1674+86del
NM_007300.3:c.5049+84_5049+86del	NP_009231.2:n.5049+84_5049+86del
NR_027676.1:n.5122+84_5122+86del
NM_007294.4:c.4986+84_4986+86del MANE Select	NP_009225.1:n.4986+84_4986+86del
NM_007297.4:c.4845+84_4845+86del	NP_009228.2:n.4845+84_4845+86del
NM_007299.4:c.1674+84_1674+86del	NP_009230.2:n.1674+84_1674+86del
NM_007300.4:c.5049+84_5049+86del	NP_009231.2:n.5049+84_5049+86del
NR_027676.2:n.5163+84_5163+86del