Canonical Allele Identifier: CA658823970

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548182
• ClinVar RCV Id: RCV000660968
• dbSNP Id: rs1555587476
• MyVariant Identifiers: chr17:g.41243971_41243972insTT (hg19) ; chr17:g.43091954_43091955insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091954_43091955insTT , CM000679.2:g.43091954_43091955insTT	GRCh38
NC_000017.10:g.41243971_41243972insTT , CM000679.1:g.41243971_41243972insTT	GRCh37
NC_000017.9:g.38497497_38497498insTT	NCBI36
NG_005905.2:g.126029_126030insAA , LRG_292:g.126029_126030insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3640_3641insAA
ENST00000461574.2:c.3576_3577insAA	ENSP00000417241.2:p.Phe1193AsnfsTer18
ENST00000470026.6:c.3576_3577insAA	ENSP00000419274.2:p.Phe1193AsnfsTer18
ENST00000473961.6:c.3450_3451insAA	ENSP00000420201.2:p.Phe1151AsnfsTer18
ENST00000476777.6:c.3573_3574insAA	ENSP00000417554.2:p.Phe1192AsnfsTer18
ENST00000477152.6:c.3498_3499insAA	ENSP00000419988.2:p.Phe1167AsnfsTer18
ENST00000478531.6:c.785-923_785-922insAA	ENSP00000420412.2:n.785-923_785-922insAA
ENST00000489037.2:c.3498_3499insAA	ENSP00000420781.2:p.Phe1167AsnfsTer18
ENST00000493919.6:c.647-923_647-922insAA	ENSP00000418819.2:n.647-923_647-922insAA
ENST00000494123.6:c.3576_3577insAA	ENSP00000419103.2:p.Phe1193AsnfsTer18
ENST00000497488.2:c.2688_2689insAA	ENSP00000418986.2:p.Phe897AsnfsTer18
ENST00000618469.2:c.3576_3577insAA	ENSP00000478114.2:p.Phe1193AsnfsTer18
ENST00000634433.2:c.3453_3454insAA	ENSP00000489431.2:p.Phe1152AsnfsTer18
ENST00000644379.2:c.3576_3577insAA	ENSP00000496570.2:p.Phe1193AsnfsTer18
ENST00000644555.2:c.647-923_647-922insAA	ENSP00000494614.2:n.647-923_647-922insAA
ENST00000652672.2:c.3435_3436insAA	ENSP00000498906.2:p.Phe1146AsnfsTer18
ENST00000484087.6:c.665-923_665-922insAA	ENSP00000419481.2:n.665-923_665-922insAA
ENST00000700182.1:c.707-923_707-922insAA	ENSP00000514849.1:n.707-923_707-922insAA
ENST00000357654.9:c.3576_3577insAA MANE Select	ENSP00000350283.3:p.Phe1193AsnfsTer18
ENST00000471181.7:c.3576_3577insAA	ENSP00000418960.2:p.Phe1193AsnfsTer18
ENST00000352993.7:c.671-923_671-922insAA	ENSP00000312236.5:n.671-923_671-922insAA
ENST00000354071.7:c.3576_3577insAA	ENSP00000326002.7:p.Phe1193AsnfsTer18
ENST00000357654.7:c.3576_3577insAA	ENSP00000350283.3:p.Phe1193AsnfsTer18
ENST00000461221.5:c.*3359_*3360insAA	ENSP00000418548.1:n.*3359_*3360insAA
ENST00000468300.5:c.788-923_788-922insAA	ENSP00000417148.1:n.788-923_788-922insAA
ENST00000471181.6:c.3576_3577insAA	ENSP00000418960.2:p.Phe1193AsnfsTer18
ENST00000478531.5:c.785-923_785-922insAA	ENSP00000420412.1:n.785-923_785-922insAA
ENST00000484087.5:c.410-923_410-922insAA	ENSP00000419481.1:n.410-923_410-922insAA
ENST00000487825.5:c.413-923_413-922insAA	ENSP00000418212.1:n.413-923_413-922insAA
ENST00000491747.6:c.788-923_788-922insAA	ENSP00000420705.2:n.788-923_788-922insAA
ENST00000493795.5:c.3435_3436insAA	ENSP00000418775.1:p.Phe1146AsnfsTer18
ENST00000493919.5:c.647-923_647-922insAA	ENSP00000418819.1:n.647-923_647-922insAA
ENST00000586385.5:c.5-28004_5-28003insAA	ENSP00000465818.1:n.5-28004_5-28003insAA
ENST00000591534.5:c.-43-17434_-43-17433insAA	ENSP00000467329.1:n.-43-17434_-43-17433insAA
ENST00000591849.5:c.-99+33316_-99+33317insAA	ENSP00000465347.1:n.-99+33316_-99+33317insAA
NM_007294.3:c.3576_3577insAA , LRG_292t1:c.3576_3577insAA	NP_009225.1:p.Phe1193AsnfsTer18
NM_007297.3:c.3435_3436insAA	NP_009228.2:p.Phe1146AsnfsTer18
NM_007298.3:c.788-923_788-922insAA	NP_009229.2:n.788-923_788-922insAA
NM_007299.3:c.788-923_788-922insAA	NP_009230.2:n.788-923_788-922insAA
NM_007300.3:c.3576_3577insAA	NP_009231.2:p.Phe1193AsnfsTer18
NR_027676.1:n.3712_3713insAA
NM_007294.4:c.3576_3577insAA MANE Select	NP_009225.1:p.Phe1193AsnfsTer18
NM_007297.4:c.3435_3436insAA	NP_009228.2:p.Phe1146AsnfsTer18
NM_007299.4:c.788-923_788-922insAA	NP_009230.2:n.788-923_788-922insAA
NM_007300.4:c.3576_3577insAA	NP_009231.2:p.Phe1193AsnfsTer18
NR_027676.2:n.3753_3754insAA