Canonical Allele Identifier: CA645373155

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431276
• ClinVar RCV Id: RCV000496833
• dbSNP Id: rs1555575677
• MyVariant Identifiers: chr17:g.41203080_41203133del (hg19) ; chr17:g.43051063_43051116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051063_43051116del , CM000679.2:g.43051063_43051116del	GRCh38
NC_000017.10:g.41203080_41203133del , CM000679.1:g.41203080_41203133del	GRCh37
NC_000017.9:g.38456606_38456659del	NCBI36
NG_005905.2:g.166868_166921del , LRG_292:g.166868_166921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5276_5329del	ENSP00000417241.2:p.Ile1759_Asp1777delinsAsn
ENST00000470026.6:c.5279_5332del	ENSP00000419274.2:p.Ile1760_Asp1778delinsAsn
ENST00000473961.6:c.5153_5206del	ENSP00000420201.2:p.Ile1718_Asp1736delinsAsn
ENST00000476777.6:c.5273_5326del	ENSP00000417554.2:p.Ile1758_Asp1776delinsAsn
ENST00000477152.6:c.5201_5254del	ENSP00000419988.2:p.Ile1734_Asp1752delinsAsn
ENST00000478531.6:c.1967_2020del	ENSP00000420412.2:p.Ile656_Asp674delinsAsn
ENST00000489037.2:c.5201_5254del	ENSP00000420781.2:p.Ile1734_Asp1752delinsAsn
ENST00000493919.6:c.1829_1882del	ENSP00000418819.2:p.Ile610_Asp628delinsAsn
ENST00000494123.6:c.5279_5332del	ENSP00000419103.2:p.Ile1760_Asp1778delinsAsn
ENST00000497488.2:c.4391_4444del	ENSP00000418986.2:p.Ile1464_Asp1482delinsAsn
ENST00000618469.2:c.5279_5332del	ENSP00000478114.2:p.Ile1760_Asp1778delinsAsn
ENST00000634433.2:c.5156_5209del	ENSP00000489431.2:p.Ile1719_Asp1737delinsAsn
ENST00000644379.2:c.5345_5398del	ENSP00000496570.2:p.Ile1782_Asp1800delinsAsn
ENST00000644555.2:c.1829_1882del	ENSP00000494614.2:p.Ile610_Asp628delinsAsn
ENST00000652672.2:c.5138_5191del	ENSP00000498906.2:p.Ile1713_Asp1731delinsAsn
ENST00000484087.6:c.1841_1894del	ENSP00000419481.2:p.Ile614_Asp632delinsAsn
ENST00000357654.9:c.5279_5332del MANE Select	ENSP00000350283.3:p.Ile1760_Asp1778delinsAsn
ENST00000471181.7:c.5342_5395del	ENSP00000418960.2:p.Ile1781_Asp1799delinsAsn
ENST00000644379.1:c.1666_1719del
ENST00000352993.7:c.1853_1906del	ENSP00000312236.5:p.Ile618_Asp636delinsAsn
ENST00000357654.7:c.5279_5332del	ENSP00000350283.3:p.Ile1760_Asp1778delinsAsn
ENST00000461221.5:c.*5062_*5115del	ENSP00000418548.1:n.*5062_*5115del
ENST00000468300.5:c.1967_2020del	ENSP00000417148.1:p.Ile656_Gly674delinsArg
ENST00000471181.6:c.5342_5395del	ENSP00000418960.2:p.Ile1781_Asp1799delinsAsn
ENST00000491747.6:c.1967_2020del	ENSP00000420705.2:p.Ile656_Asp674delinsAsn
ENST00000493795.5:c.5138_5191del	ENSP00000418775.1:p.Ile1713_Asp1731delinsAsn
ENST00000586385.5:c.209_262del	ENSP00000465818.1:p.Ile70_Asp88delinsAsn
ENST00000591534.5:c.752_805del	ENSP00000467329.1:p.Ile251_Asp269delinsAsn
ENST00000591849.5:c.-98-926_-98-873del	ENSP00000465347.1:n.-98-926_-98-873del
NM_007294.3:c.5279_5332del , LRG_292t1:c.5279_5332del	NP_009225.1:p.Ile1760_Asp1778delinsAsn
NM_007297.3:c.5138_5191del	NP_009228.2:p.Ile1713_Asp1731delinsAsn
NM_007298.3:c.1967_2020del	NP_009229.2:p.Ile656_Asp674delinsAsn
NM_007299.3:c.1967_2020del	NP_009230.2:p.Ile656_Gly674delinsArg
NM_007300.3:c.5342_5395del	NP_009231.2:p.Ile1781_Asp1799delinsAsn
NR_027676.1:n.5415_5468del
NM_007294.4:c.5279_5332del MANE Select	NP_009225.1:p.Ile1760_Asp1778delinsAsn
NM_007297.4:c.5138_5191del	NP_009228.2:p.Ile1713_Asp1731delinsAsn
NM_007299.4:c.1967_2020del	NP_009230.2:p.Ile656_Gly674delinsArg
NM_007300.4:c.5342_5395del	NP_009231.2:p.Ile1781_Asp1799delinsAsn
NR_027676.2:n.5456_5509del