Canonical Allele Identifier: CA003700

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55617
• ClinVar RCV Id: RCV000577160
• dbSNP Id: rs397509293
• MyVariant Identifiers: chr17:g.41197754_41197755insC (hg19) ; chr17:g.43045737_43045738insC (hg38)
• PubMed: PMID:22798144

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045737_43045738insC , CM000679.2:g.43045737_43045738insC	GRCh38
NC_000017.10:g.41197754_41197755insC , CM000679.1:g.41197754_41197755insC	GRCh37
NC_000017.9:g.38451280_38451281insC	NCBI36
NG_005905.2:g.172246_172247insG , LRG_292:g.172246_172247insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5529_5530insG	ENSP00000417241.2:p.Tyr1844ValfsTer?
ENST00000470026.6:c.5532_5533insG	ENSP00000419274.2:p.Tyr1845ValfsTer?
ENST00000473961.6:c.5406_5407insG	ENSP00000420201.2:p.Tyr1803ValfsTer?
ENST00000476777.6:c.5526_5527insG	ENSP00000417554.2:p.Tyr1843ValfsTer?
ENST00000477152.6:c.5454_5455insG	ENSP00000419988.2:p.Tyr1819ValfsTer?
ENST00000478531.6:c.2220_2221insG	ENSP00000420412.2:p.Tyr741ValfsTer?
ENST00000489037.2:c.5454_5455insG	ENSP00000420781.2:p.Tyr1819ValfsTer?
ENST00000493919.6:c.2082_2083insG	ENSP00000418819.2:p.Tyr695ValfsTer?
ENST00000494123.6:c.5532_5533insG	ENSP00000419103.2:p.Tyr1845ValfsTer?
ENST00000497488.2:c.4644_4645insG	ENSP00000418986.2:p.Tyr1549ValfsTer?
ENST00000618469.2:c.5532_5533insG	ENSP00000478114.2:p.Tyr1845ValfsTer?
ENST00000634433.2:c.5409_5410insG	ENSP00000489431.2:p.Tyr1804ValfsTer?
ENST00000644379.2:c.5598_5599insG	ENSP00000496570.2:p.Tyr1867ValfsTer?
ENST00000644555.2:c.2082_2083insG	ENSP00000494614.2:p.Tyr695ValfsTer?
ENST00000652672.2:c.5391_5392insG	ENSP00000498906.2:p.Tyr1798ValfsTer?
ENST00000484087.6:c.2094_2095insG	ENSP00000419481.2:p.Tyr699ValfsTer?
ENST00000700081.1:n.1415_1416insG
ENST00000700082.1:n.896_897insG
ENST00000357654.9:c.5532_5533insG MANE Select	ENSP00000350283.3:p.Tyr1845ValfsTer?
ENST00000471181.7:c.5595_5596insG	ENSP00000418960.2:p.Tyr1866ValfsTer?
ENST00000644379.1:c.1919_1920insG
ENST00000352993.7:c.2106_2107insG	ENSP00000312236.5:p.Tyr703ValfsTer?
ENST00000357654.7:c.5532_5533insG	ENSP00000350283.3:p.Tyr1845ValfsTer?
ENST00000461221.5:c.*5315_*5316insG	ENSP00000418548.1:n.*5315_*5316insG
ENST00000468300.5:c.*46_*47insG	ENSP00000417148.1:n.*46_*47insG
ENST00000471181.6:c.5595_5596insG	ENSP00000418960.2:p.Tyr1866ValfsTer?
ENST00000491747.6:c.2220_2221insG	ENSP00000420705.2:p.Tyr741ValfsTer?
ENST00000493795.5:c.5391_5392insG	ENSP00000418775.1:p.Tyr1798ValfsTer?
ENST00000586385.5:c.462_463insG	ENSP00000465818.1:p.Tyr155ValfsTer?
ENST00000591534.5:c.1005_1006insG	ENSP00000467329.1:p.Tyr336ValfsTer?
ENST00000591849.5:c.231_232insG	ENSP00000465347.1:p.Tyr78ValfsTer?
NM_007294.3:c.5532_5533insG , LRG_292t1:c.5532_5533insG	NP_009225.1:p.Tyr1845ValfsTer?
NM_007297.3:c.5391_5392insG	NP_009228.2:p.Tyr1798ValfsTer?
NM_007298.3:c.2220_2221insG	NP_009229.2:p.Tyr741ValfsTer?
NM_007299.3:c.*46_*47insG	NP_009230.2:n.*46_*47insG
NM_007300.3:c.5595_5596insG	NP_009231.2:p.Tyr1866ValfsTer?
NR_027676.1:n.5668_5669insG
NM_007294.4:c.5532_5533insG MANE Select	NP_009225.1:p.Tyr1845ValfsTer?
NM_007297.4:c.5391_5392insG	NP_009228.2:p.Tyr1798ValfsTer?
NM_007299.4:c.*46_*47insG	NP_009230.2:n.*46_*47insG
NM_007300.4:c.5595_5596insG	NP_009231.2:p.Tyr1866ValfsTer?
NR_027676.2:n.5709_5710insG