Canonical Allele Identifier: CA658824533

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 545620
• ClinVar RCV Id: RCV000656643
• dbSNP Id: rs1555592157
• MyVariant Identifiers: chr17:g.41246333_41246372del (hg19) ; chr17:g.43094316_43094355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094316_43094355del , CM000679.2:g.43094316_43094355del	GRCh38
NC_000017.10:g.41246333_41246372del , CM000679.1:g.41246333_41246372del	GRCh37
NC_000017.9:g.38499859_38499898del	NCBI36
NG_005905.2:g.123629_123668del , LRG_292:g.123629_123668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1240_1279del
ENST00000461574.2:c.1176_1215del	ENSP00000417241.2:p.Leu393MetfsTer4
ENST00000470026.6:c.1176_1215del	ENSP00000419274.2:p.Leu393MetfsTer4
ENST00000473961.6:c.1050_1089del	ENSP00000420201.2:p.Leu351MetfsTer4
ENST00000476777.6:c.1173_1212del	ENSP00000417554.2:p.Leu392MetfsTer4
ENST00000477152.6:c.1098_1137del	ENSP00000419988.2:p.Leu367MetfsTer4
ENST00000478531.6:c.784+389_784+428del	ENSP00000420412.2:n.784+389_784+428del
ENST00000489037.2:c.1098_1137del	ENSP00000420781.2:p.Leu367MetfsTer4
ENST00000493919.6:c.646+389_646+428del	ENSP00000418819.2:n.646+389_646+428del
ENST00000494123.6:c.1176_1215del	ENSP00000419103.2:p.Leu393MetfsTer4
ENST00000497488.2:c.288_327del	ENSP00000418986.2:p.Leu97MetfsTer4
ENST00000618469.2:c.1176_1215del	ENSP00000478114.2:p.Leu393MetfsTer4
ENST00000634433.2:c.1053_1092del	ENSP00000489431.2:p.Leu352MetfsTer4
ENST00000644379.2:c.1176_1215del	ENSP00000496570.2:p.Leu393MetfsTer4
ENST00000644555.2:c.646+389_646+428del	ENSP00000494614.2:n.646+389_646+428del
ENST00000652672.2:c.1035_1074del	ENSP00000498906.2:p.Leu346MetfsTer4
ENST00000484087.6:c.664+389_664+428del	ENSP00000419481.2:n.664+389_664+428del
ENST00000700182.1:c.706+389_706+428del	ENSP00000514849.1:n.706+389_706+428del
ENST00000700183.1:c.*1184_*1223del	ENSP00000514850.1:n.*1184_*1223del
ENST00000357654.9:c.1176_1215del MANE Select	ENSP00000350283.3:p.Leu393MetfsTer4
ENST00000471181.7:c.1176_1215del	ENSP00000418960.2:p.Leu393MetfsTer4
ENST00000652672.1:c.1035_1074del	ENSP00000498906.1:p.Leu346MetfsTer4
ENST00000352993.7:c.670+1491_670+1530del	ENSP00000312236.5:n.670+1491_670+1530del
ENST00000354071.7:c.1176_1215del	ENSP00000326002.7:p.Leu393MetfsTer4
ENST00000357654.7:c.1176_1215del	ENSP00000350283.3:p.Leu393MetfsTer4
ENST00000412061.3:c.527_566del
ENST00000461221.5:c.*959_*998del	ENSP00000418548.1:n.*959_*998del
ENST00000468300.5:c.787+389_787+428del	ENSP00000417148.1:n.787+389_787+428del
ENST00000470026.5:c.1176_1215del	ENSP00000419274.1:p.Leu393MetfsTer4
ENST00000471181.6:c.1176_1215del	ENSP00000418960.2:p.Leu393MetfsTer4
ENST00000473961.5:c.773_812del
ENST00000477152.5:c.1098_1137del	ENSP00000419988.1:p.Leu367MetfsTer4
ENST00000478531.5:c.784+389_784+428del	ENSP00000420412.1:n.784+389_784+428del
ENST00000484087.5:c.409+389_409+428del	ENSP00000419481.1:n.409+389_409+428del
ENST00000487825.5:c.412+389_412+428del	ENSP00000418212.1:n.412+389_412+428del
ENST00000491747.6:c.787+389_787+428del	ENSP00000420705.2:n.787+389_787+428del
ENST00000492859.5:c.*1112_*1151del	ENSP00000420253.1:n.*1112_*1151del
ENST00000493795.5:c.1035_1074del	ENSP00000418775.1:p.Leu346MetfsTer4
ENST00000493919.5:c.646+389_646+428del	ENSP00000418819.1:n.646+389_646+428del
ENST00000494123.5:c.1176_1215del	ENSP00000419103.1:p.Leu393MetfsTer4
ENST00000497488.1:c.288_327del	ENSP00000418986.1:p.Leu97MetfsTer4
ENST00000586385.5:c.5-30404_5-30365del	ENSP00000465818.1:n.5-30404_5-30365del
ENST00000591534.5:c.-43-19834_-43-19795del	ENSP00000467329.1:n.-43-19834_-43-19795de...
ENST00000591849.5:c.-99+30916_-99+30955del	ENSP00000465347.1:n.-99+30916_-99+30955de...
ENST00000634433.1:c.1053_1092del	ENSP00000489431.1:p.Leu352MetfsTer4
NM_007294.3:c.1176_1215del , LRG_292t1:c.1176_1215del	NP_009225.1:p.Leu393MetfsTer4
NM_007297.3:c.1035_1074del	NP_009228.2:p.Leu346MetfsTer4
NM_007298.3:c.787+389_787+428del	NP_009229.2:n.787+389_787+428del
NM_007299.3:c.787+389_787+428del	NP_009230.2:n.787+389_787+428del
NM_007300.3:c.1176_1215del	NP_009231.2:p.Leu393MetfsTer4
NR_027676.1:n.1312_1351del
NM_007294.4:c.1176_1215del MANE Select	NP_009225.1:p.Leu393MetfsTer4
NM_007297.4:c.1035_1074del	NP_009228.2:p.Leu346MetfsTer4
NM_007299.4:c.787+389_787+428del	NP_009230.2:n.787+389_787+428del
NM_007300.4:c.1176_1215del	NP_009231.2:p.Leu393MetfsTer4
NR_027676.2:n.1353_1392del