Canonical Allele Identifier: CA003046

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55299
• ClinVar RCV Id: RCV000225385
• dbSNP Id: rs397509199
• gnomAD v4: 17-43071076-CT-C
• MyVariant Identifiers: chr17:g.41223094del (hg19) ; chr17:g.43071077del (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071077del , CM000679.2:g.43071077del	GRCh38
NC_000017.10:g.41223094del , CM000679.1:g.41223094del	GRCh37
NC_000017.9:g.38476620del	NCBI36
NG_005905.2:g.146907del , LRG_292:g.146907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4834del	ENSP00000417241.2:p.Ser1612ValfsTer20
ENST00000470026.6:c.4837del	ENSP00000419274.2:p.Ser1613ValfsTer20
ENST00000473961.6:c.4711del	ENSP00000420201.2:p.Ser1571ValfsTer20
ENST00000476777.6:c.4831del	ENSP00000417554.2:p.Ser1611ValfsTer20
ENST00000477152.6:c.4759del	ENSP00000419988.2:p.Ser1587ValfsTer20
ENST00000478531.6:c.1525del	ENSP00000420412.2:p.Ser509ValfsTer20
ENST00000489037.2:c.4759del	ENSP00000420781.2:p.Ser1587ValfsTer20
ENST00000493919.6:c.1387del	ENSP00000418819.2:p.Ser463ValfsTer20
ENST00000494123.6:c.4837del	ENSP00000419103.2:p.Ser1613ValfsTer20
ENST00000497488.2:c.3949del	ENSP00000418986.2:p.Ser1317ValfsTer20
ENST00000618469.2:c.4837del	ENSP00000478114.2:p.Ser1613ValfsTer20
ENST00000634433.2:c.4714del	ENSP00000489431.2:p.Ser1572ValfsTer20
ENST00000644379.2:c.4903del	ENSP00000496570.2:p.Ser1635ValfsTer20
ENST00000644555.2:c.1387del	ENSP00000494614.2:p.Ser463ValfsTer20
ENST00000652672.2:c.4696del	ENSP00000498906.2:p.Ser1566ValfsTer20
ENST00000484087.6:c.1399del	ENSP00000419481.2:p.Ser467ValfsTer20
ENST00000700182.1:c.1444del	ENSP00000514849.1:p.Ser482ValfsTer20
ENST00000357654.9:c.4837del MANE Select	ENSP00000350283.3:p.Ser1613ValfsTer20
ENST00000471181.7:c.4900del	ENSP00000418960.2:p.Ser1634ValfsTer20
ENST00000644379.1:c.1224del
ENST00000352993.7:c.1411del	ENSP00000312236.5:p.Ser471ValfsTer20
ENST00000357654.7:c.4837del	ENSP00000350283.3:p.Ser1613ValfsTer20
ENST00000461221.5:c.*4620del	ENSP00000418548.1:n.*4620del
ENST00000468300.5:c.1525del	ENSP00000417148.1:p.Ser509ValfsTer20
ENST00000471181.6:c.4900del	ENSP00000418960.2:p.Ser1634ValfsTer20
ENST00000478531.5:c.1525del	ENSP00000420412.1:p.Ser509ValfsTer20
ENST00000484087.5:c.1150del	ENSP00000419481.1:p.Ser384ValfsTer20
ENST00000491747.6:c.1525del	ENSP00000420705.2:p.Ser509ValfsTer20
ENST00000493795.5:c.4696del	ENSP00000418775.1:p.Ser1566ValfsTer20
ENST00000493919.5:c.1387del	ENSP00000418819.1:p.Ser463ValfsTer20
ENST00000586385.5:c.5-7126del	ENSP00000465818.1:n.5-7126del
ENST00000591534.5:c.310del	ENSP00000467329.1:p.Ser104ValfsTer20
ENST00000591849.5:c.-98-20887del	ENSP00000465347.1:n.-98-20887del
NM_007294.3:c.4837del , LRG_292t1:c.4837del	NP_009225.1:p.Ser1613ValfsTer20
NM_007297.3:c.4696del	NP_009228.2:p.Ser1566ValfsTer20
NM_007298.3:c.1525del	NP_009229.2:p.Ser509ValfsTer20
NM_007299.3:c.1525del	NP_009230.2:p.Ser509ValfsTer20
NM_007300.3:c.4900del	NP_009231.2:p.Ser1634ValfsTer20
NR_027676.1:n.4973del
NM_007294.4:c.4837del MANE Select	NP_009225.1:p.Ser1613ValfsTer20
NM_007297.4:c.4696del	NP_009228.2:p.Ser1566ValfsTer20
NM_007299.4:c.1525del	NP_009230.2:p.Ser509ValfsTer20
NM_007300.4:c.4900del	NP_009231.2:p.Ser1634ValfsTer20
NR_027676.2:n.5014del