Canonical Allele Identifier: CA2260763694
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43051070_43051072delinsCAT , CM000679.2:g.43051070_43051072delinsCAT GRCh38
NC_000017.10:g.41203087_41203089delinsCAT , CM000679.1:g.41203087_41203089delinsCAT GRCh37
NC_000017.9:g.38456613_38456615delinsCAT NCBI36
NG_005905.2:g.166912_166914delinsATG , LRG_292:g.166912_166914delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5320_5322delinsATG ENSP00000417241.2:p.Met1774=
ENST00000470026.6:c.5323_5325delinsATG ENSP00000419274.2:p.Met1775=
ENST00000473961.6:c.5197_5199delinsATG ENSP00000420201.2:p.Met1733=
ENST00000476777.6:c.5317_5319delinsATG ENSP00000417554.2:p.Met1773=
ENST00000477152.6:c.5245_5247delinsATG ENSP00000419988.2:p.Met1749=
ENST00000478531.6:c.2011_2013delinsATG ENSP00000420412.2:p.Met671=
ENST00000489037.2:c.5245_5247delinsATG ENSP00000420781.2:p.Met1749=
ENST00000493919.6:c.1873_1875delinsATG ENSP00000418819.2:p.Met625=
ENST00000494123.6:c.5323_5325delinsATG ENSP00000419103.2:p.Met1775=
ENST00000497488.2:c.4435_4437delinsATG ENSP00000418986.2:p.Met1479=
ENST00000618469.2:c.5323_5325delinsATG ENSP00000478114.2:p.Met1775=
ENST00000634433.2:c.5200_5202delinsATG ENSP00000489431.2:p.Met1734=
ENST00000644379.2:c.5389_5391delinsATG ENSP00000496570.2:p.Met1797=
ENST00000644555.2:c.1873_1875delinsATG ENSP00000494614.2:p.Met625=
ENST00000652672.2:c.5182_5184delinsATG ENSP00000498906.2:p.Met1728=
ENST00000484087.6:c.1885_1887delinsATG ENSP00000419481.2:p.Met629=
ENST00000357654.9:c.5323_5325delinsATG MANE Select ENSP00000350283.3:p.Met1775=
ENST00000471181.7:c.5386_5388delinsATG ENSP00000418960.2:p.Met1796=
ENST00000644379.1:c.1710_1712delinsATG
ENST00000352993.7:c.1897_1899delinsATG ENSP00000312236.5:p.Met633=
ENST00000357654.7:c.5323_5325delinsATG ENSP00000350283.3:p.Met1775=
ENST00000461221.5:c.*5106_*5108delinsATG ENSP00000418548.1:n.*5106_*5108delinsATG
ENST00000468300.5:c.2011_2013delinsATG ENSP00000417148.1:p.Met671=
ENST00000471181.6:c.5386_5388delinsATG ENSP00000418960.2:p.Met1796=
ENST00000491747.6:c.2011_2013delinsATG ENSP00000420705.2:p.Met671=
ENST00000493795.5:c.5182_5184delinsATG ENSP00000418775.1:p.Met1728=
ENST00000586385.5:c.253_255delinsATG ENSP00000465818.1:p.Met85=
ENST00000591534.5:c.796_798delinsATG ENSP00000467329.1:p.Met266=
ENST00000591849.5:c.-98-882_-98-880delinsATG ENSP00000465347.1:n.-98-882_-98-880delinsATG
NM_007294.3:c.5323_5325delinsATG , LRG_292t1:c.5323_5325delinsATG NP_009225.1:p.Met1775=
NM_007297.3:c.5182_5184delinsATG NP_009228.2:p.Met1728=
NM_007298.3:c.2011_2013delinsATG NP_009229.2:p.Met671=
NM_007299.3:c.2011_2013delinsATG NP_009230.2:p.Met671=
NM_007300.3:c.5386_5388delinsATG NP_009231.2:p.Met1796=
NR_027676.1:n.5459_5461delinsATG
NM_007294.4:c.5323_5325delinsATG MANE Select NP_009225.1:p.Met1775=
NM_007297.4:c.5182_5184delinsATG NP_009228.2:p.Met1728=
NM_007299.4:c.2011_2013delinsATG NP_009230.2:p.Met671=
NM_007300.4:c.5386_5388delinsATG NP_009231.2:p.Met1796=
NR_027676.2:n.5500_5502delinsATG