Canonical Allele Identifier: CA10585908
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252385
ClinVar RCV Id: RCV000239167 RCV000539566 RCV000565393
dbSNP Id: rs879255283
MyVariant Identifiers: chr17:g.41219648_41219649del (hg19) chr17:g.43067631_43067632del (hg38)
PubMed: PMID:26295337
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067631_43067632del , CM000679.2:g.43067631_43067632del GRCh38
NC_000017.10:g.41219648_41219649del , CM000679.1:g.41219648_41219649del GRCh37
NC_000017.9:g.38473174_38473175del NCBI36
NG_005905.2:g.150352_150353del , LRG_292:g.150352_150353del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5047_5048del ENSP00000417241.2:p.Thr1683TyrfsTer10
ENST00000470026.6:c.5050_5051del ENSP00000419274.2:p.Thr1684TyrfsTer10
ENST00000473961.6:c.4924_4925del ENSP00000420201.2:p.Thr1642TyrfsTer10
ENST00000476777.6:c.5044_5045del ENSP00000417554.2:p.Thr1682TyrfsTer10
ENST00000477152.6:c.4972_4973del ENSP00000419988.2:p.Thr1658TyrfsTer10
ENST00000478531.6:c.1738_1739del ENSP00000420412.2:p.Thr580TyrfsTer10
ENST00000489037.2:c.4972_4973del ENSP00000420781.2:p.Thr1658TyrfsTer10
ENST00000493919.6:c.1600_1601del ENSP00000418819.2:p.Thr534TyrfsTer10
ENST00000494123.6:c.5050_5051del ENSP00000419103.2:p.Thr1684TyrfsTer10
ENST00000497488.2:c.4162_4163del ENSP00000418986.2:p.Thr1388TyrfsTer10
ENST00000618469.2:c.5050_5051del ENSP00000478114.2:p.Thr1684TyrfsTer10
ENST00000634433.2:c.4927_4928del ENSP00000489431.2:p.Thr1643TyrfsTer10
ENST00000644379.2:c.5116_5117del ENSP00000496570.2:p.Thr1706TyrfsTer10
ENST00000644555.2:c.1600_1601del ENSP00000494614.2:p.Thr534TyrfsTer10
ENST00000652672.2:c.4909_4910del ENSP00000498906.2:p.Thr1637TyrfsTer10
ENST00000484087.6:c.1612_1613del ENSP00000419481.2:p.Thr538TyrfsTer10
ENST00000357654.9:c.5050_5051del MANE Select ENSP00000350283.3:p.Thr1684TyrfsTer10
ENST00000471181.7:c.5113_5114del ENSP00000418960.2:p.Thr1705TyrfsTer10
ENST00000644379.1:c.1437_1438del
ENST00000352993.7:c.1624_1625del ENSP00000312236.5:p.Thr542TyrfsTer10
ENST00000357654.7:c.5050_5051del ENSP00000350283.3:p.Thr1684TyrfsTer10
ENST00000461221.5:c.*4833_*4834del ENSP00000418548.1:n.*4833_*4834del
ENST00000468300.5:c.1738_1739del ENSP00000417148.1:p.Thr580TyrfsTer10
ENST00000471181.6:c.5113_5114del ENSP00000418960.2:p.Thr1705TyrfsTer10
ENST00000472490.1:n.203_204del
ENST00000478531.5:c.1738_1739del ENSP00000420412.1:p.Thr580TyrfsTer10
ENST00000484087.5:c.1363_1364del ENSP00000419481.1:p.Thr455TyrfsTer10
ENST00000491747.6:c.1738_1739del ENSP00000420705.2:p.Thr580TyrfsTer10
ENST00000493795.5:c.4909_4910del ENSP00000418775.1:p.Thr1637TyrfsTer10
ENST00000493919.5:c.1600_1601del ENSP00000418819.1:p.Thr534TyrfsTer10
ENST00000586385.5:c.5-3681_5-3680del ENSP00000465818.1:n.5-3681_5-3680del
ENST00000591534.5:c.523_524del ENSP00000467329.1:p.Thr175TyrfsTer10
ENST00000591849.5:c.-98-17442_-98-17441del ENSP00000465347.1:n.-98-17442_-98-17441de...
NM_007294.3:c.5050_5051del , LRG_292t1:c.5050_5051del NP_009225.1:p.Thr1684TyrfsTer10
NM_007297.3:c.4909_4910del NP_009228.2:p.Thr1637TyrfsTer10
NM_007298.3:c.1738_1739del NP_009229.2:p.Thr580TyrfsTer10
NM_007299.3:c.1738_1739del NP_009230.2:p.Thr580TyrfsTer10
NM_007300.3:c.5113_5114del NP_009231.2:p.Thr1705TyrfsTer10
NR_027676.1:n.5186_5187del
NM_007294.4:c.5050_5051del MANE Select NP_009225.1:p.Thr1684TyrfsTer10
NM_007297.4:c.4909_4910del NP_009228.2:p.Thr1637TyrfsTer10
NM_007299.4:c.1738_1739del NP_009230.2:p.Thr580TyrfsTer10
NM_007300.4:c.5113_5114del NP_009231.2:p.Thr1705TyrfsTer10
NR_027676.2:n.5227_5228del
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