Canonical Allele Identifier: CA002862

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125712
• ClinVar RCV Id: RCV000112336
• dbSNP Id: rs80357620
• MyVariant Identifiers: chr17:g.41228526dupT (hg19) ; chr17:g.41228525_41228526insT (hg19) ; chr17:g.43076509dupT (hg38) ; chr17:g.43076508_43076509insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076513dup , CM000679.2:g.43076513dup	GRCh38
NC_000017.10:g.41228530dup , CM000679.1:g.41228530dup	GRCh37
NC_000017.9:g.38482056dup	NCBI36
NG_005905.2:g.141475dup , LRG_292:g.141475dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4460dup	ENSP00000417241.2:p.Asn1487LysfsTer2
ENST00000470026.6:c.4463dup	ENSP00000419274.2:p.Asn1488LysfsTer2
ENST00000473961.6:c.4337dup	ENSP00000420201.2:p.Asn1446LysfsTer2
ENST00000476777.6:c.4457dup	ENSP00000417554.2:p.Asn1486LysfsTer2
ENST00000477152.6:c.4385dup	ENSP00000419988.2:p.Asn1462LysfsTer2
ENST00000478531.6:c.1151dup	ENSP00000420412.2:p.Asn384LysfsTer2
ENST00000489037.2:c.4385dup	ENSP00000420781.2:p.Asn1462LysfsTer2
ENST00000493919.6:c.1013dup	ENSP00000418819.2:p.Asn338LysfsTer2
ENST00000494123.6:c.4463dup	ENSP00000419103.2:p.Asn1488LysfsTer2
ENST00000497488.2:c.3575dup	ENSP00000418986.2:p.Asn1192LysfsTer2
ENST00000618469.2:c.4463dup	ENSP00000478114.2:p.Asn1488LysfsTer2
ENST00000634433.2:c.4340dup	ENSP00000489431.2:p.Asn1447LysfsTer2
ENST00000644379.2:c.4529dup	ENSP00000496570.2:p.Asn1510LysfsTer2
ENST00000644555.2:c.1013dup	ENSP00000494614.2:p.Asn338LysfsTer2
ENST00000652672.2:c.4322dup	ENSP00000498906.2:p.Asn1441LysfsTer2
ENST00000484087.6:c.1025dup	ENSP00000419481.2:p.Asn342LysfsTer2
ENST00000700182.1:c.1070dup	ENSP00000514849.1:p.Asn357LysfsTer2
ENST00000357654.9:c.4463dup MANE Select	ENSP00000350283.3:p.Asn1488LysfsTer2
ENST00000471181.7:c.4526dup	ENSP00000418960.2:p.Asn1509LysfsTer2
ENST00000644379.1:c.850dup
ENST00000352993.7:c.1037dup	ENSP00000312236.5:p.Asn346LysfsTer2
ENST00000357654.7:c.4463dup	ENSP00000350283.3:p.Asn1488LysfsTer2
ENST00000461221.5:c.*4246dup	ENSP00000418548.1:n.*4246dup
ENST00000468300.5:c.1151dup	ENSP00000417148.1:p.Asn384LysfsTer2
ENST00000471181.6:c.4526dup	ENSP00000418960.2:p.Asn1509LysfsTer2
ENST00000478531.5:c.1151dup	ENSP00000420412.1:p.Asn384LysfsTer2
ENST00000484087.5:c.776dup	ENSP00000419481.1:p.Asn259LysfsTer2
ENST00000487825.5:c.779dup	ENSP00000418212.1:p.Asn260LysfsTer2
ENST00000491747.6:c.1151dup	ENSP00000420705.2:p.Asn384LysfsTer2
ENST00000493795.5:c.4322dup	ENSP00000418775.1:p.Asn1441LysfsTer2
ENST00000493919.5:c.1013dup	ENSP00000418819.1:p.Asn338LysfsTer2
ENST00000586385.5:c.5-12558dup	ENSP00000465818.1:n.5-12558dup
ENST00000591534.5:c.-43-1988dup	ENSP00000467329.1:n.-43-1988dup
ENST00000591849.5:c.-98-26319dup	ENSP00000465347.1:n.-98-26319dup
ENST00000621897.1:n.354dup
NM_007294.3:c.4463dup , LRG_292t1:c.4463dup	NP_009225.1:p.Asn1488LysfsTer2
NM_007297.3:c.4322dup	NP_009228.2:p.Asn1441LysfsTer2
NM_007298.3:c.1151dup	NP_009229.2:p.Asn384LysfsTer2
NM_007299.3:c.1151dup	NP_009230.2:p.Asn384LysfsTer2
NM_007300.3:c.4526dup	NP_009231.2:p.Asn1509LysfsTer2
NR_027676.1:n.4599dup
NM_007294.4:c.4463dup MANE Select	NP_009225.1:p.Asn1488LysfsTer2
NM_007297.4:c.4322dup	NP_009228.2:p.Asn1441LysfsTer2
NM_007299.4:c.1151dup	NP_009230.2:p.Asn384LysfsTer2
NM_007300.4:c.4526dup	NP_009231.2:p.Asn1509LysfsTer2
NR_027676.2:n.4640dup