Canonical Allele Identifier: CA2580093897
Gene: BRCA1 HGNC NCBI
BRCA Exchange:
Summary View CA2580093897
Pop AF ACMG Code (provisional) No code met (QC filter)
ClinVar Allele:
2151175
ClinVar RCV:
RCV003016764
ClinVar Variation:
2101155
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094268_43094275del , CM000679.2:g.43094268_43094275del GRCh38
NC_000017.10:g.41246285_41246292del , CM000679.1:g.41246285_41246292del GRCh37
NC_000017.9:g.38499811_38499818del NCBI36
NG_005905.2:g.123711_123718del , LRG_292:g.123711_123718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1322_1329del
ENST00000461574.2:c.1258_1265del ENSP00000417241.2:p.Asp420PhefsTer13
ENST00000470026.6:c.1258_1265del ENSP00000419274.2:p.Asp420PhefsTer13
ENST00000473961.6:c.1132_1139del ENSP00000420201.2:p.Asp378PhefsTer13
ENST00000476777.6:c.1255_1262del ENSP00000417554.2:p.Asp419PhefsTer13
ENST00000477152.6:c.1180_1187del ENSP00000419988.2:p.Asp394PhefsTer13
ENST00000478531.6:c.784+471_784+478del ENSP00000420412.2:n.784+471_784+478del
ENST00000489037.2:c.1180_1187del ENSP00000420781.2:p.Asp394PhefsTer13
ENST00000493919.6:c.646+471_646+478del ENSP00000418819.2:n.646+471_646+478del
ENST00000494123.6:c.1258_1265del ENSP00000419103.2:p.Asp420PhefsTer13
ENST00000497488.2:c.370_377del ENSP00000418986.2:p.Asp124PhefsTer13
ENST00000618469.2:c.1258_1265del ENSP00000478114.2:p.Asp420PhefsTer13
ENST00000634433.2:c.1135_1142del ENSP00000489431.2:p.Asp379PhefsTer13
ENST00000644379.2:c.1258_1265del ENSP00000496570.2:p.Asp420PhefsTer13
ENST00000644555.2:c.646+471_646+478del ENSP00000494614.2:n.646+471_646+478del
ENST00000652672.2:c.1117_1124del ENSP00000498906.2:p.Asp373PhefsTer13
ENST00000484087.6:c.664+471_664+478del ENSP00000419481.2:n.664+471_664+478del
ENST00000700182.1:c.706+471_706+478del ENSP00000514849.1:n.706+471_706+478del
ENST00000700183.1:c.*1266_*1273del ENSP00000514850.1:n.*1266_*1273del
ENST00000357654.9:c.1258_1265del MANE Select ENSP00000350283.3:p.Asp420PhefsTer13
ENST00000471181.7:c.1258_1265del ENSP00000418960.2:p.Asp420PhefsTer13
ENST00000652672.1:c.1117_1124del ENSP00000498906.1:p.Asp373PhefsTer13
ENST00000352993.7:c.670+1573_670+1580del ENSP00000312236.5:n.670+1573_670+1580del
ENST00000354071.7:c.1258_1265del ENSP00000326002.7:p.Asp420PhefsTer13
ENST00000357654.7:c.1258_1265del ENSP00000350283.3:p.Asp420PhefsTer13
ENST00000412061.3:c.609_616del
ENST00000461221.5:c.*1041_*1048del ENSP00000418548.1:n.*1041_*1048del
ENST00000468300.5:c.787+471_787+478del ENSP00000417148.1:n.787+471_787+478del
ENST00000470026.5:c.1258_1265del ENSP00000419274.1:p.Asp420PhefsTer13
ENST00000471181.6:c.1258_1265del ENSP00000418960.2:p.Asp420PhefsTer13
ENST00000473961.5:c.855_862del
ENST00000477152.5:c.1180_1187del ENSP00000419988.1:p.Asp394PhefsTer13
ENST00000478531.5:c.784+471_784+478del ENSP00000420412.1:n.784+471_784+478del
ENST00000484087.5:c.409+471_409+478del ENSP00000419481.1:n.409+471_409+478del
ENST00000487825.5:c.412+471_412+478del ENSP00000418212.1:n.412+471_412+478del
ENST00000491747.6:c.787+471_787+478del ENSP00000420705.2:n.787+471_787+478del
ENST00000492859.5:c.*1194_*1201del ENSP00000420253.1:n.*1194_*1201del
ENST00000493795.5:c.1117_1124del ENSP00000418775.1:p.Asp373PhefsTer13
ENST00000493919.5:c.646+471_646+478del ENSP00000418819.1:n.646+471_646+478del
ENST00000494123.5:c.1258_1265del ENSP00000419103.1:p.Asp420PhefsTer13
ENST00000497488.1:c.370_377del ENSP00000418986.1:p.Asp124PhefsTer13
ENST00000586385.5:c.5-30322_5-30315del ENSP00000465818.1:n.5-30322_5-30315del
ENST00000591534.5:c.-43-19752_-43-19745del ENSP00000467329.1:n.-43-19752_-43-19745del
ENST00000591849.5:c.-99+30998_-99+31005del ENSP00000465347.1:n.-99+30998_-99+31005del
ENST00000634433.1:c.1135_1142del ENSP00000489431.1:p.Asp379PhefsTer13
NM_007294.3:c.1258_1265del , LRG_292t1:c.1258_1265del NP_009225.1:p.Asp420PhefsTer13
NM_007297.3:c.1117_1124del NP_009228.2:p.Asp373PhefsTer13
NM_007298.3:c.787+471_787+478del NP_009229.2:n.787+471_787+478del
NM_007299.3:c.787+471_787+478del NP_009230.2:n.787+471_787+478del
NM_007300.3:c.1258_1265del NP_009231.2:p.Asp420PhefsTer13
NR_027676.1:n.1394_1401del
NM_007294.4:c.1258_1265del MANE Select NP_009225.1:p.Asp420PhefsTer13
NM_007297.4:c.1117_1124del NP_009228.2:p.Asp373PhefsTer13
NM_007299.4:c.787+471_787+478del NP_009230.2:n.787+471_787+478del
NM_007300.4:c.1258_1265del NP_009231.2:p.Asp420PhefsTer13
NR_027676.2:n.1435_1442del
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