Canonical Allele Identifier: CA645373140

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431268
• ClinVar RCV Id: RCV000496592
• dbSNP Id: rs1135401879
• MyVariant Identifiers: chr17:g.41222996_41222997insTT (hg19) ; chr17:g.43070979_43070980insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070979_43070980insTT , CM000679.2:g.43070979_43070980insTT	GRCh38
NC_000017.10:g.41222996_41222997insTT , CM000679.1:g.41222996_41222997insTT	GRCh37
NC_000017.9:g.38476522_38476523insTT	NCBI36
NG_005905.2:g.147004_147005insAA , LRG_292:g.147004_147005insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4931_4932insAA	ENSP00000417241.2:p.Val1645ArgfsTer13
ENST00000470026.6:c.4934_4935insAA	ENSP00000419274.2:p.Val1646ArgfsTer13
ENST00000473961.6:c.4808_4809insAA	ENSP00000420201.2:p.Val1604ArgfsTer13
ENST00000476777.6:c.4928_4929insAA	ENSP00000417554.2:p.Val1644ArgfsTer13
ENST00000477152.6:c.4856_4857insAA	ENSP00000419988.2:p.Val1620ArgfsTer13
ENST00000478531.6:c.1622_1623insAA	ENSP00000420412.2:p.Val542ArgfsTer13
ENST00000489037.2:c.4856_4857insAA	ENSP00000420781.2:p.Val1620ArgfsTer13
ENST00000493919.6:c.1484_1485insAA	ENSP00000418819.2:p.Val496ArgfsTer13
ENST00000494123.6:c.4934_4935insAA	ENSP00000419103.2:p.Val1646ArgfsTer13
ENST00000497488.2:c.4046_4047insAA	ENSP00000418986.2:p.Val1350ArgfsTer13
ENST00000618469.2:c.4934_4935insAA	ENSP00000478114.2:p.Val1646ArgfsTer13
ENST00000634433.2:c.4811_4812insAA	ENSP00000489431.2:p.Val1605ArgfsTer13
ENST00000644379.2:c.5000_5001insAA	ENSP00000496570.2:p.Val1668ArgfsTer13
ENST00000644555.2:c.1484_1485insAA	ENSP00000494614.2:p.Val496ArgfsTer13
ENST00000652672.2:c.4793_4794insAA	ENSP00000498906.2:p.Val1599ArgfsTer13
ENST00000484087.6:c.1496_1497insAA	ENSP00000419481.2:p.Val500ArgfsTer13
ENST00000700182.1:c.1541_1542insAA	ENSP00000514849.1:p.Val515ArgfsTer13
ENST00000357654.9:c.4934_4935insAA MANE Select	ENSP00000350283.3:p.Val1646ArgfsTer13
ENST00000471181.7:c.4997_4998insAA	ENSP00000418960.2:p.Val1667ArgfsTer13
ENST00000644379.1:c.1321_1322insAA
ENST00000352993.7:c.1508_1509insAA	ENSP00000312236.5:p.Val504ArgfsTer13
ENST00000357654.7:c.4934_4935insAA	ENSP00000350283.3:p.Val1646ArgfsTer13
ENST00000461221.5:c.*4717_*4718insAA	ENSP00000418548.1:n.*4717_*4718insAA
ENST00000468300.5:c.1622_1623insAA	ENSP00000417148.1:p.Val542ArgfsTer13
ENST00000471181.6:c.4997_4998insAA	ENSP00000418960.2:p.Val1667ArgfsTer13
ENST00000472490.1:n.87_88insAA
ENST00000478531.5:c.1622_1623insAA	ENSP00000420412.1:p.Val542ArgfsTer13
ENST00000484087.5:c.1247_1248insAA	ENSP00000419481.1:p.Val417ArgfsTer13
ENST00000491747.6:c.1622_1623insAA	ENSP00000420705.2:p.Val542ArgfsTer13
ENST00000493795.5:c.4793_4794insAA	ENSP00000418775.1:p.Val1599ArgfsTer13
ENST00000493919.5:c.1484_1485insAA	ENSP00000418819.1:p.Val496ArgfsTer13
ENST00000586385.5:c.5-7029_5-7028insAA	ENSP00000465818.1:n.5-7029_5-7028insAA
ENST00000591534.5:c.407_408insAA	ENSP00000467329.1:p.Val137ArgfsTer13
ENST00000591849.5:c.-98-20790_-98-20789insAA	ENSP00000465347.1:n.-98-20790_-98-20789in...
NM_007294.3:c.4934_4935insAA , LRG_292t1:c.4934_4935insAA	NP_009225.1:p.Val1646ArgfsTer13
NM_007297.3:c.4793_4794insAA	NP_009228.2:p.Val1599ArgfsTer13
NM_007298.3:c.1622_1623insAA	NP_009229.2:p.Val542ArgfsTer13
NM_007299.3:c.1622_1623insAA	NP_009230.2:p.Val542ArgfsTer13
NM_007300.3:c.4997_4998insAA	NP_009231.2:p.Val1667ArgfsTer13
NR_027676.1:n.5070_5071insAA
NM_007294.4:c.4934_4935insAA MANE Select	NP_009225.1:p.Val1646ArgfsTer13
NM_007297.4:c.4793_4794insAA	NP_009228.2:p.Val1599ArgfsTer13
NM_007299.4:c.1622_1623insAA	NP_009230.2:p.Val542ArgfsTer13
NM_007300.4:c.4997_4998insAA	NP_009231.2:p.Val1667ArgfsTer13
NR_027676.2:n.5111_5112insAA