Canonical Allele Identifier: CA658825003

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 545864
• ClinVar RCV Id: RCV000657447
• dbSNP Id: rs886040254
• MyVariant Identifiers: chr17:g.41223046del (hg19) ; chr17:g.43071029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071030del , CM000679.2:g.43071030del	GRCh38
NC_000017.10:g.41223047del , CM000679.1:g.41223047del	GRCh37
NC_000017.9:g.38476573del	NCBI36
NG_005905.2:g.146955del , LRG_292:g.146955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4882del	ENSP00000417241.2:p.Glu1628LysfsTer4
ENST00000470026.6:c.4885del	ENSP00000419274.2:p.Glu1629LysfsTer4
ENST00000473961.6:c.4759del	ENSP00000420201.2:p.Glu1587LysfsTer4
ENST00000476777.6:c.4879del	ENSP00000417554.2:p.Glu1627LysfsTer4
ENST00000477152.6:c.4807del	ENSP00000419988.2:p.Glu1603LysfsTer4
ENST00000478531.6:c.1573del	ENSP00000420412.2:p.Glu525LysfsTer4
ENST00000489037.2:c.4807del	ENSP00000420781.2:p.Glu1603LysfsTer4
ENST00000493919.6:c.1435del	ENSP00000418819.2:p.Glu479LysfsTer4
ENST00000494123.6:c.4885del	ENSP00000419103.2:p.Glu1629LysfsTer4
ENST00000497488.2:c.3997del	ENSP00000418986.2:p.Glu1333LysfsTer4
ENST00000618469.2:c.4885del	ENSP00000478114.2:p.Glu1629LysfsTer4
ENST00000634433.2:c.4762del	ENSP00000489431.2:p.Glu1588LysfsTer4
ENST00000644379.2:c.4951del	ENSP00000496570.2:p.Glu1651LysfsTer4
ENST00000644555.2:c.1435del	ENSP00000494614.2:p.Glu479LysfsTer4
ENST00000652672.2:c.4744del	ENSP00000498906.2:p.Glu1582LysfsTer4
ENST00000484087.6:c.1447del	ENSP00000419481.2:p.Glu483LysfsTer4
ENST00000700182.1:c.1492del	ENSP00000514849.1:p.Glu498LysfsTer4
ENST00000357654.9:c.4885del MANE Select	ENSP00000350283.3:p.Glu1629LysfsTer4
ENST00000471181.7:c.4948del	ENSP00000418960.2:p.Glu1650LysfsTer4
ENST00000644379.1:c.1272del
ENST00000352993.7:c.1459del	ENSP00000312236.5:p.Glu487LysfsTer4
ENST00000357654.7:c.4885del	ENSP00000350283.3:p.Glu1629LysfsTer4
ENST00000461221.5:c.*4668del	ENSP00000418548.1:n.*4668del
ENST00000468300.5:c.1573del	ENSP00000417148.1:p.Glu525LysfsTer4
ENST00000471181.6:c.4948del	ENSP00000418960.2:p.Glu1650LysfsTer4
ENST00000472490.1:n.38del
ENST00000478531.5:c.1573del	ENSP00000420412.1:p.Glu525LysfsTer4
ENST00000484087.5:c.1198del	ENSP00000419481.1:p.Glu400LysfsTer4
ENST00000491747.6:c.1573del	ENSP00000420705.2:p.Glu525LysfsTer4
ENST00000493795.5:c.4744del	ENSP00000418775.1:p.Glu1582LysfsTer4
ENST00000493919.5:c.1435del	ENSP00000418819.1:p.Glu479LysfsTer4
ENST00000586385.5:c.5-7078del	ENSP00000465818.1:n.5-7078del
ENST00000591534.5:c.358del	ENSP00000467329.1:p.Glu120LysfsTer4
ENST00000591849.5:c.-98-20839del	ENSP00000465347.1:n.-98-20839del
NM_007294.3:c.4885del , LRG_292t1:c.4885del	NP_009225.1:p.Glu1629LysfsTer4
NM_007297.3:c.4744del	NP_009228.2:p.Glu1582LysfsTer4
NM_007298.3:c.1573del	NP_009229.2:p.Glu525LysfsTer4
NM_007299.3:c.1573del	NP_009230.2:p.Glu525LysfsTer4
NM_007300.3:c.4948del	NP_009231.2:p.Glu1650LysfsTer4
NR_027676.1:n.5021del
NM_007294.4:c.4885del MANE Select	NP_009225.1:p.Glu1629LysfsTer4
NM_007297.4:c.4744del	NP_009228.2:p.Glu1582LysfsTer4
NM_007299.4:c.1573del	NP_009230.2:p.Glu525LysfsTer4
NM_007300.4:c.4948del	NP_009231.2:p.Glu1650LysfsTer4
NR_027676.2:n.5062del