Canonical Allele Identifier: CA10589671

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266467
• ClinVar RCV Id: RCV000257189
• dbSNP Id: rs886040222
• MyVariant Identifiers: chr17:g.41234482_41234488del (hg19) ; chr17:g.43082465_43082471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082466_43082472del , CM000679.2:g.43082466_43082472del	GRCh38
NC_000017.10:g.41234483_41234489del , CM000679.1:g.41234483_41234489del	GRCh37
NC_000017.9:g.38488009_38488015del	NCBI36
NG_005905.2:g.135513_135519del , LRG_292:g.135513_135519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4290_4296del	ENSP00000417241.2:p.Ser1431Ter
ENST00000470026.6:c.4290_4296del	ENSP00000419274.2:p.Ser1431Ter
ENST00000473961.6:c.4164_4170del	ENSP00000420201.2:p.Ser1389Ter
ENST00000476777.6:c.4284_4290del	ENSP00000417554.2:p.Ser1429Ter
ENST00000477152.6:c.4212_4218del	ENSP00000419988.2:p.Ser1405Ter
ENST00000478531.6:c.978_984del	ENSP00000420412.2:p.Ser327Ter
ENST00000489037.2:c.4212_4218del	ENSP00000420781.2:p.Ser1405Ter
ENST00000493919.6:c.840_846del	ENSP00000418819.2:p.Ser281Ter
ENST00000494123.6:c.4290_4296del	ENSP00000419103.2:p.Ser1431Ter
ENST00000497488.2:c.3402_3408del	ENSP00000418986.2:p.Ser1135Ter
ENST00000618469.2:c.4290_4296del	ENSP00000478114.2:p.Ser1431Ter
ENST00000634433.2:c.4167_4173del	ENSP00000489431.2:p.Ser1390Ter
ENST00000644379.2:c.4290_4296del	ENSP00000496570.2:p.Ser1431Ter
ENST00000644555.2:c.840_846del	ENSP00000494614.2:p.Ser281Ter
ENST00000652672.2:c.4149_4155del	ENSP00000498906.2:p.Ser1384Ter
ENST00000484087.6:c.855_861del	ENSP00000419481.2:p.Ser286Ter
ENST00000700182.1:c.900_906del	ENSP00000514849.1:p.Ser301Ter
ENST00000357654.9:c.4290_4296del MANE Select	ENSP00000350283.3:p.Ser1431Ter
ENST00000471181.7:c.4290_4296del	ENSP00000418960.2:p.Ser1431Ter
ENST00000644379.1:c.611_617del
ENST00000352993.7:c.864_870del	ENSP00000312236.5:p.Ser289Ter
ENST00000357654.7:c.4290_4296del	ENSP00000350283.3:p.Ser1431Ter
ENST00000461221.5:c.*4073_*4079del	ENSP00000418548.1:n.*4073_*4079del
ENST00000461574.1:c.584_590del
ENST00000468300.5:c.981_987del	ENSP00000417148.1:p.Ser328Ter
ENST00000471181.6:c.4290_4296del	ENSP00000418960.2:p.Ser1431Ter
ENST00000478531.5:c.978_984del	ENSP00000420412.1:p.Ser327Ter
ENST00000484087.5:c.603_609del	ENSP00000419481.1:p.Ser202Ter
ENST00000487825.5:c.606_612del	ENSP00000418212.1:p.Ser203Ter
ENST00000491747.6:c.981_987del	ENSP00000420705.2:p.Ser328Ter
ENST00000493795.5:c.4149_4155del	ENSP00000418775.1:p.Ser1384Ter
ENST00000493919.5:c.840_846del	ENSP00000418819.1:p.Ser281Ter
ENST00000586385.5:c.5-18520_5-18514del	ENSP00000465818.1:n.5-18520_5-18514del
ENST00000591534.5:c.-43-7950_-43-7944del	ENSP00000467329.1:n.-43-7950_-43-7944del
ENST00000591849.5:c.-98-32281_-98-32275del	ENSP00000465347.1:n.-98-32281_-98-32275de...
ENST00000621897.1:n.184_190del
NM_007294.3:c.4290_4296del , LRG_292t1:c.4290_4296del	NP_009225.1:p.Ser1431Ter
NM_007297.3:c.4149_4155del	NP_009228.2:p.Ser1384Ter
NM_007298.3:c.981_987del	NP_009229.2:p.Ser328Ter
NM_007299.3:c.981_987del	NP_009230.2:p.Ser328Ter
NM_007300.3:c.4290_4296del	NP_009231.2:p.Ser1431Ter
NR_027676.1:n.4426_4432del
NM_007294.4:c.4290_4296del MANE Select	NP_009225.1:p.Ser1431Ter
NM_007297.4:c.4149_4155del	NP_009228.2:p.Ser1384Ter
NM_007299.4:c.981_987del	NP_009230.2:p.Ser328Ter
NM_007300.4:c.4290_4296del	NP_009231.2:p.Ser1431Ter
NR_027676.2:n.4467_4473del