Canonical Allele Identifier: CA16620417
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418073
dbSNP Id: rs1064793059

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045739_43045740del , CM000679.2:g.43045739_43045740del GRCh38
NC_000017.10:g.41197756_41197757del , CM000679.1:g.41197756_41197757del GRCh37
NC_000017.9:g.38451282_38451283del NCBI36
NG_005905.2:g.172246_172247del , LRG_292:g.172246_172247del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5529_5530del ENSP00000417241.2:p.Tyr1844ProfsTer?
ENST00000470026.6:c.5532_5533del ENSP00000419274.2:p.Tyr1845ProfsTer?
ENST00000473961.6:c.5406_5407del ENSP00000420201.2:p.Tyr1803ProfsTer?
ENST00000476777.6:c.5526_5527del ENSP00000417554.2:p.Tyr1843ProfsTer?
ENST00000477152.6:c.5454_5455del ENSP00000419988.2:p.Tyr1819ProfsTer?
ENST00000478531.6:c.2220_2221del ENSP00000420412.2:p.Tyr741ProfsTer?
ENST00000489037.2:c.5454_5455del ENSP00000420781.2:p.Tyr1819ProfsTer?
ENST00000493919.6:c.2082_2083del ENSP00000418819.2:p.Tyr695ProfsTer?
ENST00000494123.6:c.5532_5533del ENSP00000419103.2:p.Tyr1845ProfsTer?
ENST00000497488.2:c.4644_4645del ENSP00000418986.2:p.Tyr1549ProfsTer?
ENST00000618469.2:c.5532_5533del ENSP00000478114.2:p.Tyr1845ProfsTer?
ENST00000634433.2:c.5409_5410del ENSP00000489431.2:p.Tyr1804ProfsTer?
ENST00000644379.2:c.5598_5599del ENSP00000496570.2:p.Tyr1867ProfsTer?
ENST00000644555.2:c.2082_2083del ENSP00000494614.2:p.Tyr695ProfsTer?
ENST00000652672.2:c.5391_5392del ENSP00000498906.2:p.Tyr1798ProfsTer?
ENST00000484087.6:c.2094_2095del ENSP00000419481.2:p.Tyr699ProfsTer?
ENST00000700081.1:n.1415_1416del
ENST00000700082.1:n.896_897del
ENST00000357654.9:c.5532_5533del MANE Select ENSP00000350283.3:p.Tyr1845ProfsTer?
ENST00000471181.7:c.5595_5596del ENSP00000418960.2:p.Tyr1866ProfsTer?
ENST00000644379.1:c.1919_1920del
ENST00000352993.7:c.2106_2107del ENSP00000312236.5:p.Tyr703ProfsTer?
ENST00000357654.7:c.5532_5533del ENSP00000350283.3:p.Tyr1845ProfsTer?
ENST00000461221.5:c.*5315_*5316del ENSP00000418548.1:n.*5315_*5316del
ENST00000468300.5:c.*46_*47del ENSP00000417148.1:n.*46_*47del
ENST00000471181.6:c.5595_5596del ENSP00000418960.2:p.Tyr1866ProfsTer?
ENST00000491747.6:c.2220_2221del ENSP00000420705.2:p.Tyr741ProfsTer?
ENST00000493795.5:c.5391_5392del ENSP00000418775.1:p.Tyr1798ProfsTer?
ENST00000586385.5:c.462_463del ENSP00000465818.1:p.Tyr155ProfsTer?
ENST00000591534.5:c.1005_1006del ENSP00000467329.1:p.Tyr336ProfsTer?
ENST00000591849.5:c.231_232del ENSP00000465347.1:p.Tyr78ProfsTer?
NM_007294.3:c.5532_5533del , LRG_292t1:c.5532_5533del NP_009225.1:p.Tyr1845ProfsTer?
NM_007297.3:c.5391_5392del NP_009228.2:p.Tyr1798ProfsTer?
NM_007298.3:c.2220_2221del NP_009229.2:p.Tyr741ProfsTer?
NM_007299.3:c.*46_*47del NP_009230.2:n.*46_*47del
NM_007300.3:c.5595_5596del NP_009231.2:p.Tyr1866ProfsTer?
NR_027676.1:n.5668_5669del
NM_007294.4:c.5532_5533del MANE Select NP_009225.1:p.Tyr1845ProfsTer?
NM_007297.4:c.5391_5392del NP_009228.2:p.Tyr1798ProfsTer?
NM_007299.4:c.*46_*47del NP_009230.2:n.*46_*47del
NM_007300.4:c.5595_5596del NP_009231.2:p.Tyr1866ProfsTer?
NR_027676.2:n.5709_5710del