Canonical Allele Identifier: CA10589962

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266142
• ClinVar RCV Id: RCV000257830
• dbSNP Id: rs886039931
• MyVariant Identifiers: chr17:g.41246368_41246369insA (hg19) ; chr17:g.43094351_43094352insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094351_43094352insA , CM000679.2:g.43094351_43094352insA	GRCh38
NC_000017.10:g.41246368_41246369insA , CM000679.1:g.41246368_41246369insA	GRCh37
NC_000017.9:g.38499894_38499895insA	NCBI36
NG_005905.2:g.123632_123633insT , LRG_292:g.123632_123633insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1243_1244insT
ENST00000461574.2:c.1179_1180insT	ENSP00000417241.2:p.Gly394TrpfsTer3
ENST00000470026.6:c.1179_1180insT	ENSP00000419274.2:p.Gly394TrpfsTer3
ENST00000473961.6:c.1053_1054insT	ENSP00000420201.2:p.Gly352TrpfsTer3
ENST00000476777.6:c.1176_1177insT	ENSP00000417554.2:p.Gly393TrpfsTer3
ENST00000477152.6:c.1101_1102insT	ENSP00000419988.2:p.Gly368TrpfsTer3
ENST00000478531.6:c.784+392_784+393insT	ENSP00000420412.2:n.784+392_784+393insT
ENST00000489037.2:c.1101_1102insT	ENSP00000420781.2:p.Gly368TrpfsTer3
ENST00000493919.6:c.646+392_646+393insT	ENSP00000418819.2:n.646+392_646+393insT
ENST00000494123.6:c.1179_1180insT	ENSP00000419103.2:p.Gly394TrpfsTer3
ENST00000497488.2:c.291_292insT	ENSP00000418986.2:p.Gly98TrpfsTer3
ENST00000618469.2:c.1179_1180insT	ENSP00000478114.2:p.Gly394TrpfsTer3
ENST00000634433.2:c.1056_1057insT	ENSP00000489431.2:p.Gly353TrpfsTer3
ENST00000644379.2:c.1179_1180insT	ENSP00000496570.2:p.Gly394TrpfsTer3
ENST00000644555.2:c.646+392_646+393insT	ENSP00000494614.2:n.646+392_646+393insT
ENST00000652672.2:c.1038_1039insT	ENSP00000498906.2:p.Gly347TrpfsTer3
ENST00000484087.6:c.664+392_664+393insT	ENSP00000419481.2:n.664+392_664+393insT
ENST00000700182.1:c.706+392_706+393insT	ENSP00000514849.1:n.706+392_706+393insT
ENST00000700183.1:c.*1187_*1188insT	ENSP00000514850.1:n.*1187_*1188insT
ENST00000357654.9:c.1179_1180insT MANE Select	ENSP00000350283.3:p.Gly394TrpfsTer3
ENST00000471181.7:c.1179_1180insT	ENSP00000418960.2:p.Gly394TrpfsTer3
ENST00000652672.1:c.1038_1039insT	ENSP00000498906.1:p.Gly347TrpfsTer3
ENST00000352993.7:c.670+1494_670+1495insT	ENSP00000312236.5:n.670+1494_670+1495insT...
ENST00000354071.7:c.1179_1180insT	ENSP00000326002.7:p.Gly394TrpfsTer3
ENST00000357654.7:c.1179_1180insT	ENSP00000350283.3:p.Gly394TrpfsTer3
ENST00000412061.3:c.530_531insT
ENST00000461221.5:c.*962_*963insT	ENSP00000418548.1:n.*962_*963insT
ENST00000468300.5:c.787+392_787+393insT	ENSP00000417148.1:n.787+392_787+393insT
ENST00000470026.5:c.1179_1180insT	ENSP00000419274.1:p.Gly394TrpfsTer3
ENST00000471181.6:c.1179_1180insT	ENSP00000418960.2:p.Gly394TrpfsTer3
ENST00000473961.5:c.776_777insT
ENST00000477152.5:c.1101_1102insT	ENSP00000419988.1:p.Gly368TrpfsTer3
ENST00000478531.5:c.784+392_784+393insT	ENSP00000420412.1:n.784+392_784+393insT
ENST00000484087.5:c.409+392_409+393insT	ENSP00000419481.1:n.409+392_409+393insT
ENST00000487825.5:c.412+392_412+393insT	ENSP00000418212.1:n.412+392_412+393insT
ENST00000491747.6:c.787+392_787+393insT	ENSP00000420705.2:n.787+392_787+393insT
ENST00000492859.5:c.*1115_*1116insT	ENSP00000420253.1:n.*1115_*1116insT
ENST00000493795.5:c.1038_1039insT	ENSP00000418775.1:p.Gly347TrpfsTer3
ENST00000493919.5:c.646+392_646+393insT	ENSP00000418819.1:n.646+392_646+393insT
ENST00000494123.5:c.1179_1180insT	ENSP00000419103.1:p.Gly394TrpfsTer3
ENST00000497488.1:c.291_292insT	ENSP00000418986.1:p.Gly98TrpfsTer3
ENST00000586385.5:c.5-30401_5-30400insT	ENSP00000465818.1:n.5-30401_5-30400insT
ENST00000591534.5:c.-43-19831_-43-19830insT	ENSP00000467329.1:n.-43-19831_-43-19830in...
ENST00000591849.5:c.-99+30919_-99+30920insT	ENSP00000465347.1:n.-99+30919_-99+30920in...
ENST00000634433.1:c.1056_1057insT	ENSP00000489431.1:p.Gly353TrpfsTer3
NM_007294.3:c.1179_1180insT , LRG_292t1:c.1179_1180insT	NP_009225.1:p.Gly394TrpfsTer3
NM_007297.3:c.1038_1039insT	NP_009228.2:p.Gly347TrpfsTer3
NM_007298.3:c.787+392_787+393insT	NP_009229.2:n.787+392_787+393insT
NM_007299.3:c.787+392_787+393insT	NP_009230.2:n.787+392_787+393insT
NM_007300.3:c.1179_1180insT	NP_009231.2:p.Gly394TrpfsTer3
NR_027676.1:n.1315_1316insT
NM_007294.4:c.1179_1180insT MANE Select	NP_009225.1:p.Gly394TrpfsTer3
NM_007297.4:c.1038_1039insT	NP_009228.2:p.Gly347TrpfsTer3
NM_007299.4:c.787+392_787+393insT	NP_009230.2:n.787+392_787+393insT
NM_007300.4:c.1179_1180insT	NP_009231.2:p.Gly394TrpfsTer3
NR_027676.2:n.1356_1357insT