Canonical Allele Identifier: CA772175697

Gene: BRCA1

Linked Data

• dbSNP Id: rs1192933432
• gnomAD v3: 17-43066805-TC-T
• gnomAD v4: 17-43066805-TC-T
• MyVariant Identifiers: chr17:g.41218823del (hg19) ; chr17:g.43066806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43066807del , CM000679.2:g.43066807del	GRCh38
NC_000017.10:g.41218824del , CM000679.1:g.41218824del	GRCh37
NC_000017.9:g.38472350del	NCBI36
NG_005905.2:g.151178del , LRG_292:g.151178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+802del	ENSP00000417241.2:n.5071+802del
ENST00000470026.6:c.5074+802del	ENSP00000419274.2:n.5074+802del
ENST00000473961.6:c.4948+802del	ENSP00000420201.2:n.4948+802del
ENST00000476777.6:c.5068+802del	ENSP00000417554.2:n.5068+802del
ENST00000477152.6:c.4996+802del	ENSP00000419988.2:n.4996+802del
ENST00000478531.6:c.1762+802del	ENSP00000420412.2:n.1762+802del
ENST00000489037.2:c.4996+802del	ENSP00000420781.2:n.4996+802del
ENST00000493919.6:c.1624+802del	ENSP00000418819.2:n.1624+802del
ENST00000494123.6:c.5074+802del	ENSP00000419103.2:n.5074+802del
ENST00000497488.2:c.4186+802del	ENSP00000418986.2:n.4186+802del
ENST00000618469.2:c.5074+802del	ENSP00000478114.2:n.5074+802del
ENST00000634433.2:c.4951+802del	ENSP00000489431.2:n.4951+802del
ENST00000644379.2:c.5140+802del	ENSP00000496570.2:n.5140+802del
ENST00000644555.2:c.1624+802del	ENSP00000494614.2:n.1624+802del
ENST00000652672.2:c.4933+802del	ENSP00000498906.2:n.4933+802del
ENST00000484087.6:c.1636+802del	ENSP00000419481.2:n.1636+802del
ENST00000357654.9:c.5074+802del MANE Select	ENSP00000350283.3:n.5074+802del
ENST00000471181.7:c.5137+802del	ENSP00000418960.2:n.5137+802del
ENST00000644379.1:c.1461+802del
ENST00000352993.7:c.1648+802del	ENSP00000312236.5:n.1648+802del
ENST00000357654.7:c.5074+802del	ENSP00000350283.3:n.5074+802del
ENST00000461221.5:c.*4857+802del	ENSP00000418548.1:n.*4857+802del
ENST00000468300.5:c.1762+802del	ENSP00000417148.1:n.1762+802del
ENST00000471181.6:c.5137+802del	ENSP00000418960.2:n.5137+802del
ENST00000478531.5:c.1762+802del	ENSP00000420412.1:n.1762+802del
ENST00000484087.5:c.1387+802del	ENSP00000419481.1:n.1387+802del
ENST00000491747.6:c.1762+802del	ENSP00000420705.2:n.1762+802del
ENST00000493795.5:c.4933+802del	ENSP00000418775.1:n.4933+802del
ENST00000493919.5:c.1624+802del	ENSP00000418819.1:n.1624+802del
ENST00000586385.5:c.5-2855del	ENSP00000465818.1:n.5-2855del
ENST00000591534.5:c.547+802del	ENSP00000467329.1:n.547+802del
ENST00000591849.5:c.-98-16616del	ENSP00000465347.1:n.-98-16616del
NM_007294.3:c.5074+802del , LRG_292t1:c.5074+802del	NP_009225.1:n.5074+802del
NM_007297.3:c.4933+802del	NP_009228.2:n.4933+802del
NM_007298.3:c.1762+802del	NP_009229.2:n.1762+802del
NM_007299.3:c.1762+802del	NP_009230.2:n.1762+802del
NM_007300.3:c.5137+802del	NP_009231.2:n.5137+802del
NR_027676.1:n.5210+802del
NM_007294.4:c.5074+802del MANE Select	NP_009225.1:n.5074+802del
NM_007297.4:c.4933+802del	NP_009228.2:n.4933+802del
NM_007299.4:c.1762+802del	NP_009230.2:n.1762+802del
NM_007300.4:c.5137+802del	NP_009231.2:n.5137+802del
NR_027676.2:n.5251+802del