Canonical Allele Identifier: CA658825002

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548310
• ClinVar RCV Id: RCV000661352
• dbSNP Id: rs1555580653
• MyVariant Identifiers: chr17:g.41222995_41222996insTT (hg19) ; chr17:g.43070978_43070979insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070978_43070979insTT , CM000679.2:g.43070978_43070979insTT	GRCh38
NC_000017.10:g.41222995_41222996insTT , CM000679.1:g.41222995_41222996insTT	GRCh37
NC_000017.9:g.38476521_38476522insTT	NCBI36
NG_005905.2:g.147005_147006insAA , LRG_292:g.147005_147006insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4932_4933insAA	ENSP00000417241.2:p.Val1645LysfsTer13
ENST00000470026.6:c.4935_4936insAA	ENSP00000419274.2:p.Val1646LysfsTer13
ENST00000473961.6:c.4809_4810insAA	ENSP00000420201.2:p.Val1604LysfsTer13
ENST00000476777.6:c.4929_4930insAA	ENSP00000417554.2:p.Val1644LysfsTer13
ENST00000477152.6:c.4857_4858insAA	ENSP00000419988.2:p.Val1620LysfsTer13
ENST00000478531.6:c.1623_1624insAA	ENSP00000420412.2:p.Val542LysfsTer13
ENST00000489037.2:c.4857_4858insAA	ENSP00000420781.2:p.Val1620LysfsTer13
ENST00000493919.6:c.1485_1486insAA	ENSP00000418819.2:p.Val496LysfsTer13
ENST00000494123.6:c.4935_4936insAA	ENSP00000419103.2:p.Val1646LysfsTer13
ENST00000497488.2:c.4047_4048insAA	ENSP00000418986.2:p.Val1350LysfsTer13
ENST00000618469.2:c.4935_4936insAA	ENSP00000478114.2:p.Val1646LysfsTer13
ENST00000634433.2:c.4812_4813insAA	ENSP00000489431.2:p.Val1605LysfsTer13
ENST00000644379.2:c.5001_5002insAA	ENSP00000496570.2:p.Val1668LysfsTer13
ENST00000644555.2:c.1485_1486insAA	ENSP00000494614.2:p.Val496LysfsTer13
ENST00000652672.2:c.4794_4795insAA	ENSP00000498906.2:p.Val1599LysfsTer13
ENST00000484087.6:c.1497_1498insAA	ENSP00000419481.2:p.Val500LysfsTer13
ENST00000700182.1:c.1542_1543insAA	ENSP00000514849.1:p.Val515LysfsTer13
ENST00000357654.9:c.4935_4936insAA MANE Select	ENSP00000350283.3:p.Val1646LysfsTer13
ENST00000471181.7:c.4998_4999insAA	ENSP00000418960.2:p.Val1667LysfsTer13
ENST00000644379.1:c.1322_1323insAA
ENST00000352993.7:c.1509_1510insAA	ENSP00000312236.5:p.Val504LysfsTer13
ENST00000357654.7:c.4935_4936insAA	ENSP00000350283.3:p.Val1646LysfsTer13
ENST00000461221.5:c.*4718_*4719insAA	ENSP00000418548.1:n.*4718_*4719insAA
ENST00000468300.5:c.1623_1624insAA	ENSP00000417148.1:p.Val542LysfsTer13
ENST00000471181.6:c.4998_4999insAA	ENSP00000418960.2:p.Val1667LysfsTer13
ENST00000472490.1:n.88_89insAA
ENST00000478531.5:c.1623_1624insAA	ENSP00000420412.1:p.Val542LysfsTer13
ENST00000484087.5:c.1248_1249insAA	ENSP00000419481.1:p.Val417LysfsTer13
ENST00000491747.6:c.1623_1624insAA	ENSP00000420705.2:p.Val542LysfsTer13
ENST00000493795.5:c.4794_4795insAA	ENSP00000418775.1:p.Val1599LysfsTer13
ENST00000493919.5:c.1485_1486insAA	ENSP00000418819.1:p.Val496LysfsTer13
ENST00000586385.5:c.5-7028_5-7027insAA	ENSP00000465818.1:n.5-7028_5-7027insAA
ENST00000591534.5:c.408_409insAA	ENSP00000467329.1:p.Val137LysfsTer13
ENST00000591849.5:c.-98-20789_-98-20788insAA	ENSP00000465347.1:n.-98-20789_-98-20788in...
NM_007294.3:c.4935_4936insAA , LRG_292t1:c.4935_4936insAA	NP_009225.1:p.Val1646LysfsTer13
NM_007297.3:c.4794_4795insAA	NP_009228.2:p.Val1599LysfsTer13
NM_007298.3:c.1623_1624insAA	NP_009229.2:p.Val542LysfsTer13
NM_007299.3:c.1623_1624insAA	NP_009230.2:p.Val542LysfsTer13
NM_007300.3:c.4998_4999insAA	NP_009231.2:p.Val1667LysfsTer13
NR_027676.1:n.5071_5072insAA
NM_007294.4:c.4935_4936insAA MANE Select	NP_009225.1:p.Val1646LysfsTer13
NM_007297.4:c.4794_4795insAA	NP_009228.2:p.Val1599LysfsTer13
NM_007299.4:c.1623_1624insAA	NP_009230.2:p.Val542LysfsTer13
NM_007300.4:c.4998_4999insAA	NP_009231.2:p.Val1667LysfsTer13
NR_027676.2:n.5112_5113insAA