Canonical Allele Identifier: CA658653684

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 441347
• ClinVar RCV Id: RCV000510131 ; RCV000661347 ; RCV000781034
• dbSNP Id: rs1555580840
• MyVariant Identifiers: chr17:g.41223096_41223097del (hg19) ; chr17:g.43071079_43071080del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071079_43071080del , CM000679.2:g.43071079_43071080del	GRCh38
NC_000017.10:g.41223096_41223097del , CM000679.1:g.41223096_41223097del	GRCh37
NC_000017.9:g.38476622_38476623del	NCBI36
NG_005905.2:g.146904_146905del , LRG_292:g.146904_146905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4831_4832del	ENSP00000417241.2:p.Gln1611GlufsTer9
ENST00000470026.6:c.4834_4835del	ENSP00000419274.2:p.Gln1612GlufsTer9
ENST00000473961.6:c.4708_4709del	ENSP00000420201.2:p.Gln1570GlufsTer9
ENST00000476777.6:c.4828_4829del	ENSP00000417554.2:p.Gln1610GlufsTer9
ENST00000477152.6:c.4756_4757del	ENSP00000419988.2:p.Gln1586GlufsTer9
ENST00000478531.6:c.1522_1523del	ENSP00000420412.2:p.Gln508GlufsTer9
ENST00000489037.2:c.4756_4757del	ENSP00000420781.2:p.Gln1586GlufsTer9
ENST00000493919.6:c.1384_1385del	ENSP00000418819.2:p.Gln462GlufsTer9
ENST00000494123.6:c.4834_4835del	ENSP00000419103.2:p.Gln1612GlufsTer9
ENST00000497488.2:c.3946_3947del	ENSP00000418986.2:p.Gln1316GlufsTer9
ENST00000618469.2:c.4834_4835del	ENSP00000478114.2:p.Gln1612GlufsTer9
ENST00000634433.2:c.4711_4712del	ENSP00000489431.2:p.Gln1571GlufsTer9
ENST00000644379.2:c.4900_4901del	ENSP00000496570.2:p.Gln1634GlufsTer9
ENST00000644555.2:c.1384_1385del	ENSP00000494614.2:p.Gln462GlufsTer9
ENST00000652672.2:c.4693_4694del	ENSP00000498906.2:p.Gln1565GlufsTer9
ENST00000484087.6:c.1396_1397del	ENSP00000419481.2:p.Gln466GlufsTer9
ENST00000700182.1:c.1441_1442del	ENSP00000514849.1:p.Gln481GlufsTer9
ENST00000357654.9:c.4834_4835del MANE Select	ENSP00000350283.3:p.Gln1612GlufsTer9
ENST00000471181.7:c.4897_4898del	ENSP00000418960.2:p.Gln1633GlufsTer9
ENST00000644379.1:c.1221_1222del
ENST00000352993.7:c.1408_1409del	ENSP00000312236.5:p.Gln470GlufsTer9
ENST00000357654.7:c.4834_4835del	ENSP00000350283.3:p.Gln1612GlufsTer9
ENST00000461221.5:c.*4617_*4618del	ENSP00000418548.1:n.*4617_*4618del
ENST00000468300.5:c.1522_1523del	ENSP00000417148.1:p.Gln508GlufsTer9
ENST00000471181.6:c.4897_4898del	ENSP00000418960.2:p.Gln1633GlufsTer9
ENST00000478531.5:c.1522_1523del	ENSP00000420412.1:p.Gln508GlufsTer9
ENST00000484087.5:c.1147_1148del	ENSP00000419481.1:p.Gln383GlufsTer9
ENST00000491747.6:c.1522_1523del	ENSP00000420705.2:p.Gln508GlufsTer9
ENST00000493795.5:c.4693_4694del	ENSP00000418775.1:p.Gln1565GlufsTer9
ENST00000493919.5:c.1384_1385del	ENSP00000418819.1:p.Gln462GlufsTer9
ENST00000586385.5:c.5-7129_5-7128del	ENSP00000465818.1:n.5-7129_5-7128del
ENST00000591534.5:c.307_308del	ENSP00000467329.1:p.Gln103GlufsTer9
ENST00000591849.5:c.-98-20890_-98-20889del	ENSP00000465347.1:n.-98-20890_-98-20889de...
NM_007294.3:c.4834_4835del , LRG_292t1:c.4834_4835del	NP_009225.1:p.Gln1612GlufsTer9
NM_007297.3:c.4693_4694del	NP_009228.2:p.Gln1565GlufsTer9
NM_007298.3:c.1522_1523del	NP_009229.2:p.Gln508GlufsTer9
NM_007299.3:c.1522_1523del	NP_009230.2:p.Gln508GlufsTer9
NM_007300.3:c.4897_4898del	NP_009231.2:p.Gln1633GlufsTer9
NR_027676.1:n.4970_4971del
NM_007294.4:c.4834_4835del MANE Select	NP_009225.1:p.Gln1612GlufsTer9
NM_007297.4:c.4693_4694del	NP_009228.2:p.Gln1565GlufsTer9
NM_007299.4:c.1522_1523del	NP_009230.2:p.Gln508GlufsTer9
NM_007300.4:c.4897_4898del	NP_009231.2:p.Gln1633GlufsTer9
NR_027676.2:n.5011_5012del