Canonical Allele Identifier: CA658824708

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548175
• ClinVar RCV Id: RCV000660943
• dbSNP Id: rs1555574436
• MyVariant Identifiers: chr17:g.41197791_41197792insAA (hg19) ; chr17:g.43045774_43045775insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045775_43045776insAA , CM000679.2:g.43045775_43045776insAA	GRCh38
NC_000017.10:g.41197792_41197793insAA , CM000679.1:g.41197792_41197793insAA	GRCh37
NC_000017.9:g.38451318_38451319insAA	NCBI36
NG_005905.2:g.172209_172210insTT , LRG_292:g.172209_172210insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5492_5493insTT	ENSP00000417241.2:p.Val1832TrpfsTer2
ENST00000470026.6:c.5495_5496insTT	ENSP00000419274.2:p.Val1833TrpfsTer2
ENST00000473961.6:c.5369_5370insTT	ENSP00000420201.2:p.Val1791TrpfsTer2
ENST00000476777.6:c.5489_5490insTT	ENSP00000417554.2:p.Val1831TrpfsTer2
ENST00000477152.6:c.5417_5418insTT	ENSP00000419988.2:p.Val1807TrpfsTer2
ENST00000478531.6:c.2183_2184insTT	ENSP00000420412.2:p.Val729TrpfsTer2
ENST00000489037.2:c.5417_5418insTT	ENSP00000420781.2:p.Val1807TrpfsTer2
ENST00000493919.6:c.2045_2046insTT	ENSP00000418819.2:p.Val683TrpfsTer2
ENST00000494123.6:c.5495_5496insTT	ENSP00000419103.2:p.Val1833TrpfsTer2
ENST00000497488.2:c.4607_4608insTT	ENSP00000418986.2:p.Val1537TrpfsTer2
ENST00000618469.2:c.5495_5496insTT	ENSP00000478114.2:p.Val1833TrpfsTer2
ENST00000634433.2:c.5372_5373insTT	ENSP00000489431.2:p.Val1792TrpfsTer2
ENST00000644379.2:c.5561_5562insTT	ENSP00000496570.2:p.Val1855TrpfsTer2
ENST00000644555.2:c.2045_2046insTT	ENSP00000494614.2:p.Val683TrpfsTer2
ENST00000652672.2:c.5354_5355insTT	ENSP00000498906.2:p.Val1786TrpfsTer2
ENST00000484087.6:c.2057_2058insTT	ENSP00000419481.2:p.Val687TrpfsTer2
ENST00000700081.1:n.1378_1379insTT
ENST00000700082.1:n.859_860insTT
ENST00000357654.9:c.5495_5496insTT MANE Select	ENSP00000350283.3:p.Val1833TrpfsTer2
ENST00000471181.7:c.5558_5559insTT	ENSP00000418960.2:p.Val1854TrpfsTer2
ENST00000644379.1:c.1882_1883insTT
ENST00000352993.7:c.2069_2070insTT	ENSP00000312236.5:p.Val691TrpfsTer2
ENST00000357654.7:c.5495_5496insTT	ENSP00000350283.3:p.Val1833TrpfsTer2
ENST00000461221.5:c.*5278_*5279insTT	ENSP00000418548.1:n.*5278_*5279insTT
ENST00000468300.5:c.*9_*10insTT	ENSP00000417148.1:n.*9_*10insTT
ENST00000471181.6:c.5558_5559insTT	ENSP00000418960.2:p.Val1854TrpfsTer2
ENST00000491747.6:c.2183_2184insTT	ENSP00000420705.2:p.Val729TrpfsTer2
ENST00000493795.5:c.5354_5355insTT	ENSP00000418775.1:p.Val1786TrpfsTer2
ENST00000586385.5:c.425_426insTT	ENSP00000465818.1:p.Val143TrpfsTer2
ENST00000591534.5:c.968_969insTT	ENSP00000467329.1:p.Val324TrpfsTer2
ENST00000591849.5:c.194_195insTT	ENSP00000465347.1:p.Val66TrpfsTer2
NM_007294.3:c.5495_5496insTT , LRG_292t1:c.5495_5496insTT	NP_009225.1:p.Val1833TrpfsTer2
NM_007297.3:c.5354_5355insTT	NP_009228.2:p.Val1786TrpfsTer2
NM_007298.3:c.2183_2184insTT	NP_009229.2:p.Val729TrpfsTer2
NM_007299.3:c.*9_*10insTT	NP_009230.2:n.*9_*10insTT
NM_007300.3:c.5558_5559insTT	NP_009231.2:p.Val1854TrpfsTer2
NR_027676.1:n.5631_5632insTT
NM_007294.4:c.5495_5496insTT MANE Select	NP_009225.1:p.Val1833TrpfsTer2
NM_007297.4:c.5354_5355insTT	NP_009228.2:p.Val1786TrpfsTer2
NM_007299.4:c.*9_*10insTT	NP_009230.2:n.*9_*10insTT
NM_007300.4:c.5558_5559insTT	NP_009231.2:p.Val1854TrpfsTer2
NR_027676.2:n.5672_5673insTT