Canonical Allele Identifier: CA2733911657
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2153582538

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063875_43063877del , CM000679.2:g.43063875_43063877del GRCh38
NC_000017.10:g.41215892_41215894del , CM000679.1:g.41215892_41215894del GRCh37
NC_000017.9:g.38469418_38469420del NCBI36
NG_005905.2:g.154108_154110del , LRG_292:g.154108_154110del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5147_5149del ENSP00000417241.2:p.Phe1716del
ENST00000470026.6:c.5150_5152del ENSP00000419274.2:p.Phe1717del
ENST00000473961.6:c.5024_5026del ENSP00000420201.2:p.Phe1675del
ENST00000476777.6:c.5144_5146del ENSP00000417554.2:p.Phe1715del
ENST00000477152.6:c.5072_5074del ENSP00000419988.2:p.Phe1691del
ENST00000478531.6:c.1838_1840del ENSP00000420412.2:p.Phe613del
ENST00000489037.2:c.5072_5074del ENSP00000420781.2:p.Phe1691del
ENST00000493919.6:c.1700_1702del ENSP00000418819.2:p.Phe567del
ENST00000494123.6:c.5150_5152del ENSP00000419103.2:p.Phe1717del
ENST00000497488.2:c.4262_4264del ENSP00000418986.2:p.Phe1421del
ENST00000618469.2:c.5150_5152del ENSP00000478114.2:p.Phe1717del
ENST00000634433.2:c.5027_5029del ENSP00000489431.2:p.Phe1676del
ENST00000644379.2:c.5216_5218del ENSP00000496570.2:p.Phe1739del
ENST00000644555.2:c.1700_1702del ENSP00000494614.2:p.Phe567del
ENST00000652672.2:c.5009_5011del ENSP00000498906.2:p.Phe1670del
ENST00000484087.6:c.1712_1714del ENSP00000419481.2:p.Phe571del
ENST00000357654.9:c.5150_5152del MANE Select ENSP00000350283.3:p.Phe1717del
ENST00000471181.7:c.5213_5215del ENSP00000418960.2:p.Phe1738del
ENST00000644379.1:c.1537_1539del
ENST00000352993.7:c.1724_1726del ENSP00000312236.5:p.Phe575del
ENST00000357654.7:c.5150_5152del ENSP00000350283.3:p.Phe1717del
ENST00000461221.5:c.*4933_*4935del ENSP00000418548.1:n.*4933_*4935del
ENST00000468300.5:c.1838_1840del ENSP00000417148.1:p.Phe613del
ENST00000471181.6:c.5213_5215del ENSP00000418960.2:p.Phe1738del
ENST00000478531.5:c.1838_1840del ENSP00000420412.1:p.Phe613del
ENST00000484087.5:c.1463_1465del ENSP00000419481.1:p.Phe488del
ENST00000491747.6:c.1838_1840del ENSP00000420705.2:p.Phe613del
ENST00000493795.5:c.5009_5011del ENSP00000418775.1:p.Phe1670del
ENST00000493919.5:c.1700_1702del ENSP00000418819.1:p.Phe567del
ENST00000586385.5:c.80_82del ENSP00000465818.1:p.Phe27del
ENST00000591534.5:c.623_625del ENSP00000467329.1:p.Phe208del
ENST00000591849.5:c.-98-13686_-98-13684del ENSP00000465347.1:n.-98-13686_-98-13684de...
NM_007294.3:c.5150_5152del , LRG_292t1:c.5150_5152del NP_009225.1:p.Phe1717del
NM_007297.3:c.5009_5011del NP_009228.2:p.Phe1670del
NM_007298.3:c.1838_1840del NP_009229.2:p.Phe613del
NM_007299.3:c.1838_1840del NP_009230.2:p.Phe613del
NM_007300.3:c.5213_5215del NP_009231.2:p.Phe1738del
NR_027676.1:n.5286_5288del
NM_007294.4:c.5150_5152del MANE Select NP_009225.1:p.Phe1717del
NM_007297.4:c.5009_5011del NP_009228.2:p.Phe1670del
NM_007299.4:c.1838_1840del NP_009230.2:p.Phe613del
NM_007300.4:c.5213_5215del NP_009231.2:p.Phe1738del
NR_027676.2:n.5327_5329del