Canonical Allele Identifier: CA3249307706
Community Standard Title: NM_007294.4(BRCA1):c.1766_1767delinsTT (p.Ser589Ile)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093764_43093765delinsAA , CM000679.2:g.43093764_43093765delinsAA GRCh38
NC_000017.10:g.41245781_41245782delinsAA , CM000679.1:g.41245781_41245782delinsAA GRCh37
NC_000017.9:g.38499307_38499308delinsAA NCBI36
NG_005905.2:g.124219_124220delinsTT , LRG_292:g.124219_124220delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.1766_1767delinsTT MANE Select NP_009225.1:p.Ser589Ile
ENST00000357654.9:c.1766_1767delinsTT MANE Select ENSP00000350283.3:p.Ser589Ile
NM_007294.3:c.1766_1767delinsTT , LRG_292t1:c.1766_1767delinsTT NP_009225.1:p.Ser589Ile
NM_007297.3:c.1625_1626delinsTT NP_009228.2:p.Ser542Ile
NM_007297.4:c.1625_1626delinsTT NP_009228.2:p.Ser542Ile
NM_007298.3:c.787+979_787+980delinsTT NP_009229.2:n.787+979_787+980delinsTT
NM_007299.3:c.787+979_787+980delinsTT NP_009230.2:n.787+979_787+980delinsTT
NM_007299.4:c.787+979_787+980delinsTT NP_009230.2:n.787+979_787+980delinsTT
NM_007300.3:c.1766_1767delinsTT NP_009231.2:p.Ser589Ile
NM_007300.4:c.1766_1767delinsTT NP_009231.2:p.Ser589Ile
NR_027676.1:n.1902_1903delinsTT
NR_027676.2:n.1943_1944delinsTT
ENST00000352993.7:c.670+2081_670+2082delinsTT ENSP00000312236.5:n.670+2081_670+2082delinsTT
ENST00000354071.7:c.1766_1767delinsTT ENSP00000326002.7:p.Ser589Ile
ENST00000354071.8:n.1830_1831delinsTT
ENST00000357654.7:c.1766_1767delinsTT ENSP00000350283.3:p.Ser589Ile
ENST00000412061.3:c.1117_1118delinsTT
ENST00000461221.5:c.*1549_*1550delinsTT ENSP00000418548.1:n.*1549_*1550delinsTT
ENST00000461574.2:c.1766_1767delinsTT ENSP00000417241.2:p.Ser589Ile
ENST00000468300.5:c.787+979_787+980delinsTT ENSP00000417148.1:n.787+979_787+980delinsTT
ENST00000470026.5:c.1766_1767delinsTT ENSP00000419274.1:p.Ser589Ile
ENST00000470026.6:c.1766_1767delinsTT ENSP00000419274.2:p.Ser589Ile
ENST00000471181.6:c.1766_1767delinsTT ENSP00000418960.2:p.Ser589Ile
ENST00000471181.7:c.1766_1767delinsTT ENSP00000418960.2:p.Ser589Ile
ENST00000473961.6:c.1640_1641delinsTT ENSP00000420201.2:p.Ser547Ile
ENST00000476777.6:c.1763_1764delinsTT ENSP00000417554.2:p.Ser588Ile
ENST00000477152.5:c.1688_1689delinsTT ENSP00000419988.1:p.Ser563Ile
ENST00000477152.6:c.1688_1689delinsTT ENSP00000419988.2:p.Ser563Ile
ENST00000478531.5:c.784+979_784+980delinsTT ENSP00000420412.1:n.784+979_784+980delinsTT
ENST00000478531.6:c.784+979_784+980delinsTT ENSP00000420412.2:n.784+979_784+980delinsTT
ENST00000484087.5:c.409+979_409+980delinsTT ENSP00000419481.1:n.409+979_409+980delinsTT
ENST00000484087.6:c.664+979_664+980delinsTT ENSP00000419481.2:n.664+979_664+980delinsTT
ENST00000487825.5:c.412+979_412+980delinsTT ENSP00000418212.1:n.412+979_412+980delinsTT
ENST00000489037.2:c.1688_1689delinsTT ENSP00000420781.2:p.Ser563Ile
ENST00000491747.6:c.787+979_787+980delinsTT ENSP00000420705.2:n.787+979_787+980delinsTT
ENST00000493795.5:c.1625_1626delinsTT ENSP00000418775.1:p.Ser542Ile
ENST00000493919.5:c.646+979_646+980delinsTT ENSP00000418819.1:n.646+979_646+980delinsTT
ENST00000493919.6:c.646+979_646+980delinsTT ENSP00000418819.2:n.646+979_646+980delinsTT
ENST00000494123.6:c.1766_1767delinsTT ENSP00000419103.2:p.Ser589Ile
ENST00000497488.2:c.878_879delinsTT ENSP00000418986.2:p.Ser293Ile
ENST00000586385.5:c.5-29814_5-29813delinsTT ENSP00000465818.1:n.5-29814_5-29813delinsTT
ENST00000591534.5:c.-43-19244_-43-19243delinsTT ENSP00000467329.1:n.-43-19244_-43-19243delinsTT
ENST00000591849.5:c.-99+31506_-99+31507delinsTT ENSP00000465347.1:n.-99+31506_-99+31507delinsTT
ENST00000618469.2:c.1766_1767delinsTT ENSP00000478114.2:p.Ser589Ile
ENST00000634433.1:c.1643_1644delinsTT ENSP00000489431.1:p.Ser548Ile
ENST00000634433.2:c.1643_1644delinsTT ENSP00000489431.2:p.Ser548Ile
ENST00000644379.2:c.1766_1767delinsTT ENSP00000496570.2:p.Ser589Ile
ENST00000644555.2:c.646+979_646+980delinsTT ENSP00000494614.2:n.646+979_646+980delinsTT
ENST00000652672.1:c.1625_1626delinsTT ENSP00000498906.1:p.Ser542Ile
ENST00000652672.2:c.1625_1626delinsTT ENSP00000498906.2:p.Ser542Ile
ENST00000700182.1:c.706+979_706+980delinsTT ENSP00000514849.1:n.706+979_706+980delinsTT