Canonical Allele Identifier: CA2499224415

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049292
• ClinVar RCV Id: RCV001355232
• dbSNP Id: rs886040231

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076556_43076557del , CM000679.2:g.43076556_43076557del	GRCh38
NC_000017.10:g.41228573_41228574del , CM000679.1:g.41228573_41228574del	GRCh37
NC_000017.9:g.38482099_38482100del	NCBI36
NG_005905.2:g.141428_141429del , LRG_292:g.141428_141429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4413_4414del	ENSP00000417241.2:p.Ser1472CysfsTer2
ENST00000470026.6:c.4416_4417del	ENSP00000419274.2:p.Ser1473CysfsTer2
ENST00000473961.6:c.4290_4291del	ENSP00000420201.2:p.Ser1431CysfsTer2
ENST00000476777.6:c.4410_4411del	ENSP00000417554.2:p.Ser1471CysfsTer2
ENST00000477152.6:c.4338_4339del	ENSP00000419988.2:p.Ser1447CysfsTer2
ENST00000478531.6:c.1104_1105del	ENSP00000420412.2:p.Ser369CysfsTer2
ENST00000489037.2:c.4338_4339del	ENSP00000420781.2:p.Ser1447CysfsTer2
ENST00000493919.6:c.966_967del	ENSP00000418819.2:p.Ser323CysfsTer2
ENST00000494123.6:c.4416_4417del	ENSP00000419103.2:p.Ser1473CysfsTer2
ENST00000497488.2:c.3528_3529del	ENSP00000418986.2:p.Ser1177CysfsTer2
ENST00000618469.2:c.4416_4417del	ENSP00000478114.2:p.Ser1473CysfsTer2
ENST00000634433.2:c.4293_4294del	ENSP00000489431.2:p.Ser1432CysfsTer2
ENST00000644379.2:c.4482_4483del	ENSP00000496570.2:p.Ser1495CysfsTer2
ENST00000644555.2:c.966_967del	ENSP00000494614.2:p.Ser323CysfsTer2
ENST00000652672.2:c.4275_4276del	ENSP00000498906.2:p.Ser1426CysfsTer2
ENST00000484087.6:c.978_979del	ENSP00000419481.2:p.Ser327CysfsTer2
ENST00000700182.1:c.1023_1024del	ENSP00000514849.1:p.Ser342CysfsTer2
ENST00000357654.9:c.4416_4417del MANE Select	ENSP00000350283.3:p.Ser1473CysfsTer2
ENST00000471181.7:c.4479_4480del	ENSP00000418960.2:p.Ser1494CysfsTer2
ENST00000644379.1:c.803_804del
ENST00000352993.7:c.990_991del	ENSP00000312236.5:p.Ser331CysfsTer2
ENST00000357654.7:c.4416_4417del	ENSP00000350283.3:p.Ser1473CysfsTer2
ENST00000461221.5:c.*4199_*4200del	ENSP00000418548.1:n.*4199_*4200del
ENST00000461574.1:c.707_708del
ENST00000468300.5:c.1104_1105del	ENSP00000417148.1:p.Ser369CysfsTer2
ENST00000471181.6:c.4479_4480del	ENSP00000418960.2:p.Ser1494CysfsTer2
ENST00000478531.5:c.1104_1105del	ENSP00000420412.1:p.Ser369CysfsTer2
ENST00000484087.5:c.729_730del	ENSP00000419481.1:p.Ser244CysfsTer2
ENST00000487825.5:c.732_733del	ENSP00000418212.1:p.Ser245CysfsTer2
ENST00000491747.6:c.1104_1105del	ENSP00000420705.2:p.Ser369CysfsTer2
ENST00000493795.5:c.4275_4276del	ENSP00000418775.1:p.Ser1426CysfsTer2
ENST00000493919.5:c.966_967del	ENSP00000418819.1:p.Ser323CysfsTer2
ENST00000586385.5:c.5-12605_5-12604del	ENSP00000465818.1:n.5-12605_5-12604del
ENST00000591534.5:c.-43-2035_-43-2034del	ENSP00000467329.1:n.-43-2035_-43-2034del
ENST00000591849.5:c.-98-26366_-98-26365del	ENSP00000465347.1:n.-98-26366_-98-26365del
ENST00000621897.1:n.307_308del
NM_007294.3:c.4416_4417del , LRG_292t1:c.4416_4417del	NP_009225.1:p.Ser1473CysfsTer2
NM_007297.3:c.4275_4276del	NP_009228.2:p.Ser1426CysfsTer2
NM_007298.3:c.1104_1105del	NP_009229.2:p.Ser369CysfsTer2
NM_007299.3:c.1104_1105del	NP_009230.2:p.Ser369CysfsTer2
NM_007300.3:c.4479_4480del	NP_009231.2:p.Ser1494CysfsTer2
NR_027676.1:n.4552_4553del
NM_007294.4:c.4416_4417del MANE Select	NP_009225.1:p.Ser1473CysfsTer2
NM_007297.4:c.4275_4276del	NP_009228.2:p.Ser1426CysfsTer2
NM_007299.4:c.1104_1105del	NP_009230.2:p.Ser369CysfsTer2
NM_007300.4:c.4479_4480del	NP_009231.2:p.Ser1494CysfsTer2
NR_027676.2:n.4593_4594del