Canonical Allele Identifier: CA2580094075
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1787082
ClinVar RCV Id: RCV002432726

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093359_43093361delinsGGA , CM000679.2:g.43093359_43093361delinsGGA GRCh38
NC_000017.10:g.41245376_41245378delinsGGA , CM000679.1:g.41245376_41245378delinsGGA GRCh37
NC_000017.9:g.38498902_38498904delinsGGA NCBI36
NG_005905.2:g.124623_124625delinsTCC , LRG_292:g.124623_124625delinsTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2234_2236delinsTCC
ENST00000461574.2:c.2170_2172delinsTCC ENSP00000417241.2:p.Pro724Ser
ENST00000470026.6:c.2170_2172delinsTCC ENSP00000419274.2:p.Pro724Ser
ENST00000473961.6:c.2044_2046delinsTCC ENSP00000420201.2:p.Pro682Ser
ENST00000476777.6:c.2167_2169delinsTCC ENSP00000417554.2:p.Pro723Ser
ENST00000477152.6:c.2092_2094delinsTCC ENSP00000419988.2:p.Pro698Ser
ENST00000478531.6:c.784+1383_784+1385delinsTCC ENSP00000420412.2:n.784+1383_784+1385deli...
ENST00000489037.2:c.2092_2094delinsTCC ENSP00000420781.2:p.Pro698Ser
ENST00000493919.6:c.646+1383_646+1385delinsTCC ENSP00000418819.2:n.646+1383_646+1385deli...
ENST00000494123.6:c.2170_2172delinsTCC ENSP00000419103.2:p.Pro724Ser
ENST00000497488.2:c.1282_1284delinsTCC ENSP00000418986.2:p.Pro428Ser
ENST00000618469.2:c.2170_2172delinsTCC ENSP00000478114.2:p.Pro724Ser
ENST00000634433.2:c.2047_2049delinsTCC ENSP00000489431.2:p.Pro683Ser
ENST00000644379.2:c.2170_2172delinsTCC ENSP00000496570.2:p.Pro724Ser
ENST00000644555.2:c.646+1383_646+1385delinsTCC ENSP00000494614.2:n.646+1383_646+1385deli...
ENST00000652672.2:c.2029_2031delinsTCC ENSP00000498906.2:p.Pro677Ser
ENST00000484087.6:c.664+1383_664+1385delinsTCC ENSP00000419481.2:n.664+1383_664+1385deli...
ENST00000700182.1:c.706+1383_706+1385delinsTCC ENSP00000514849.1:n.706+1383_706+1385deli...
ENST00000357654.9:c.2170_2172delinsTCC MANE Select ENSP00000350283.3:p.Pro724Ser
ENST00000471181.7:c.2170_2172delinsTCC ENSP00000418960.2:p.Pro724Ser
ENST00000352993.7:c.671-2329_671-2327delinsTCC ENSP00000312236.5:n.671-2329_671-2327deli...
ENST00000354071.7:c.2170_2172delinsTCC ENSP00000326002.7:p.Pro724Ser
ENST00000357654.7:c.2170_2172delinsTCC ENSP00000350283.3:p.Pro724Ser
ENST00000461221.5:c.*1953_*1955delinsTCC ENSP00000418548.1:n.*1953_*1955delinsTCC
ENST00000468300.5:c.787+1383_787+1385delinsTCC ENSP00000417148.1:n.787+1383_787+1385deli...
ENST00000471181.6:c.2170_2172delinsTCC ENSP00000418960.2:p.Pro724Ser
ENST00000478531.5:c.784+1383_784+1385delinsTCC ENSP00000420412.1:n.784+1383_784+1385deli...
ENST00000484087.5:c.409+1383_409+1385delinsTCC ENSP00000419481.1:n.409+1383_409+1385deli...
ENST00000487825.5:c.412+1383_412+1385delinsTCC ENSP00000418212.1:n.412+1383_412+1385deli...
ENST00000491747.6:c.787+1383_787+1385delinsTCC ENSP00000420705.2:n.787+1383_787+1385deli...
ENST00000493795.5:c.2029_2031delinsTCC ENSP00000418775.1:p.Pro677Ser
ENST00000493919.5:c.646+1383_646+1385delinsTCC ENSP00000418819.1:n.646+1383_646+1385deli...
ENST00000586385.5:c.5-29410_5-29408delinsTCC ENSP00000465818.1:n.5-29410_5-29408delins...
ENST00000591534.5:c.-43-18840_-43-18838delinsTCC ENSP00000467329.1:n.-43-18840_-43-18838de...
ENST00000591849.5:c.-99+31910_-99+31912delinsTCC ENSP00000465347.1:n.-99+31910_-99+31912de...
ENST00000634433.1:c.2047_2049delinsTCC ENSP00000489431.1:p.Pro683Ser
NM_007294.3:c.2170_2172delinsTCC , LRG_292t1:c.2170_2172delinsTCC NP_009225.1:p.Pro724Ser
NM_007297.3:c.2029_2031delinsTCC NP_009228.2:p.Pro677Ser
NM_007298.3:c.787+1383_787+1385delinsTCC NP_009229.2:n.787+1383_787+1385delinsTCC
NM_007299.3:c.787+1383_787+1385delinsTCC NP_009230.2:n.787+1383_787+1385delinsTCC
NM_007300.3:c.2170_2172delinsTCC NP_009231.2:p.Pro724Ser
NR_027676.1:n.2306_2308delinsTCC
NM_007294.4:c.2170_2172delinsTCC MANE Select NP_009225.1:p.Pro724Ser
NM_007297.4:c.2029_2031delinsTCC NP_009228.2:p.Pro677Ser
NM_007299.4:c.787+1383_787+1385delinsTCC NP_009230.2:n.787+1383_787+1385delinsTCC
NM_007300.4:c.2170_2172delinsTCC NP_009231.2:p.Pro724Ser
NR_027676.2:n.2347_2349delinsTCC