Canonical Allele Identifier: CA2697559976

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2692271
• ClinVar RCV Id: RCV003494468

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076563del , CM000679.2:g.43076563del	GRCh38
NC_000017.10:g.41228580del , CM000679.1:g.41228580del	GRCh37
NC_000017.9:g.38482106del	NCBI36
NG_005905.2:g.141422del , LRG_292:g.141422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4407del	ENSP00000417241.2:p.Gly1470AlafsTer?
ENST00000470026.6:c.4410del	ENSP00000419274.2:p.Gly1471AlafsTer?
ENST00000473961.6:c.4284del	ENSP00000420201.2:p.Gly1429AlafsTer?
ENST00000476777.6:c.4404del	ENSP00000417554.2:p.Gly1469AlafsTer?
ENST00000477152.6:c.4332del	ENSP00000419988.2:p.Gly1445AlafsTer?
ENST00000478531.6:c.1098del	ENSP00000420412.2:p.Gly367AlafsTer?
ENST00000489037.2:c.4332del	ENSP00000420781.2:p.Gly1445AlafsTer?
ENST00000493919.6:c.960del	ENSP00000418819.2:p.Gly321AlafsTer?
ENST00000494123.6:c.4410del	ENSP00000419103.2:p.Gly1471AlafsTer?
ENST00000497488.2:c.3522del	ENSP00000418986.2:p.Gly1175AlafsTer?
ENST00000618469.2:c.4410del	ENSP00000478114.2:p.Gly1471AlafsTer?
ENST00000634433.2:c.4287del	ENSP00000489431.2:p.Gly1430AlafsTer?
ENST00000644379.2:c.4476del	ENSP00000496570.2:p.Gly1493AlafsTer?
ENST00000644555.2:c.960del	ENSP00000494614.2:p.Gly321AlafsTer?
ENST00000652672.2:c.4269del	ENSP00000498906.2:p.Gly1424AlafsTer?
ENST00000484087.6:c.972del	ENSP00000419481.2:p.Gly325AlafsTer?
ENST00000700182.1:c.1017del	ENSP00000514849.1:p.Gly340AlafsTer?
ENST00000357654.9:c.4410del MANE Select	ENSP00000350283.3:p.Gly1471AlafsTer?
ENST00000471181.7:c.4473del	ENSP00000418960.2:p.Gly1492AlafsTer?
ENST00000644379.1:c.797del
ENST00000352993.7:c.984del	ENSP00000312236.5:p.Gly329AlafsTer?
ENST00000357654.7:c.4410del	ENSP00000350283.3:p.Gly1471AlafsTer?
ENST00000461221.5:c.*4193del	ENSP00000418548.1:n.*4193del
ENST00000461574.1:c.701del
ENST00000468300.5:c.1098del	ENSP00000417148.1:p.Gly367AlafsTer?
ENST00000471181.6:c.4473del	ENSP00000418960.2:p.Gly1492AlafsTer?
ENST00000478531.5:c.1098del	ENSP00000420412.1:p.Gly367AlafsTer?
ENST00000484087.5:c.723del	ENSP00000419481.1:p.Gly242AlafsTer?
ENST00000487825.5:c.726del	ENSP00000418212.1:p.Gly243AlafsTer?
ENST00000491747.6:c.1098del	ENSP00000420705.2:p.Gly367AlafsTer?
ENST00000493795.5:c.4269del	ENSP00000418775.1:p.Gly1424AlafsTer?
ENST00000493919.5:c.960del	ENSP00000418819.1:p.Gly321AlafsTer?
ENST00000586385.5:c.5-12611del	ENSP00000465818.1:n.5-12611del
ENST00000591534.5:c.-43-2041del	ENSP00000467329.1:n.-43-2041del
ENST00000591849.5:c.-98-26372del	ENSP00000465347.1:n.-98-26372del
ENST00000621897.1:n.301del
NM_007294.3:c.4410del , LRG_292t1:c.4410del	NP_009225.1:p.Gly1471AlafsTer?
NM_007297.3:c.4269del	NP_009228.2:p.Gly1424AlafsTer?
NM_007298.3:c.1098del	NP_009229.2:p.Gly367AlafsTer?
NM_007299.3:c.1098del	NP_009230.2:p.Gly367AlafsTer?
NM_007300.3:c.4473del	NP_009231.2:p.Gly1492AlafsTer?
NR_027676.1:n.4546del
NM_007294.4:c.4410del MANE Select	NP_009225.1:p.Gly1471AlafsTer?
NM_007297.4:c.4269del	NP_009228.2:p.Gly1424AlafsTer?
NM_007299.4:c.1098del	NP_009230.2:p.Gly367AlafsTer?
NM_007300.4:c.4473del	NP_009231.2:p.Gly1492AlafsTer?
NR_027676.2:n.4587del