Canonical Allele Identifier: CA2260778044

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082521_43082522delinsGT , CM000679.2:g.43082521_43082522delinsGT	GRCh38
NC_000017.10:g.41234538_41234539delinsGT , CM000679.1:g.41234538_41234539delinsGT	GRCh37
NC_000017.9:g.38488064_38488065delinsGT	NCBI36
NG_005905.2:g.135462_135463delinsAC , LRG_292:g.135462_135463delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4239_4240delinsAC	ENSP00000417241.2:p.Glu1413=
ENST00000470026.6:c.4239_4240delinsAC	ENSP00000419274.2:p.Glu1413=
ENST00000473961.6:c.4113_4114delinsAC	ENSP00000420201.2:p.Glu1371=
ENST00000476777.6:c.4233_4234delinsAC	ENSP00000417554.2:p.Glu1411=
ENST00000477152.6:c.4161_4162delinsAC	ENSP00000419988.2:p.Glu1387=
ENST00000478531.6:c.927_928delinsAC	ENSP00000420412.2:p.Glu309=
ENST00000489037.2:c.4161_4162delinsAC	ENSP00000420781.2:p.Glu1387=
ENST00000493919.6:c.789_790delinsAC	ENSP00000418819.2:p.Glu263=
ENST00000494123.6:c.4239_4240delinsAC	ENSP00000419103.2:p.Glu1413=
ENST00000497488.2:c.3351_3352delinsAC	ENSP00000418986.2:p.Glu1117=
ENST00000618469.2:c.4239_4240delinsAC	ENSP00000478114.2:p.Glu1413=
ENST00000634433.2:c.4116_4117delinsAC	ENSP00000489431.2:p.Glu1372=
ENST00000644379.2:c.4239_4240delinsAC	ENSP00000496570.2:p.Glu1413=
ENST00000644555.2:c.789_790delinsAC	ENSP00000494614.2:p.Glu263=
ENST00000652672.2:c.4098_4099delinsAC	ENSP00000498906.2:p.Glu1366=
ENST00000484087.6:c.804_805delinsAC	ENSP00000419481.2:p.Glu268=
ENST00000700182.1:c.849_850delinsAC	ENSP00000514849.1:p.Glu283=
ENST00000357654.9:c.4239_4240delinsAC MANE Select	ENSP00000350283.3:p.Glu1413=
ENST00000471181.7:c.4239_4240delinsAC	ENSP00000418960.2:p.Glu1413=
ENST00000644379.1:c.560_561delinsAC
ENST00000352993.7:c.813_814delinsAC	ENSP00000312236.5:p.Glu271=
ENST00000357654.7:c.4239_4240delinsAC	ENSP00000350283.3:p.Glu1413=
ENST00000461221.5:c.*4022_*4023delinsAC	ENSP00000418548.1:n.*4022_*4023delinsAC
ENST00000461574.1:c.533_534delinsAC
ENST00000468300.5:c.930_931delinsAC	ENSP00000417148.1:p.Glu310=
ENST00000471181.6:c.4239_4240delinsAC	ENSP00000418960.2:p.Glu1413=
ENST00000478531.5:c.927_928delinsAC	ENSP00000420412.1:p.Glu309=
ENST00000484087.5:c.552_553delinsAC	ENSP00000419481.1:p.Glu184=
ENST00000487825.5:c.555_556delinsAC	ENSP00000418212.1:p.Glu185=
ENST00000491747.6:c.930_931delinsAC	ENSP00000420705.2:p.Glu310=
ENST00000493795.5:c.4098_4099delinsAC	ENSP00000418775.1:p.Glu1366=
ENST00000493919.5:c.789_790delinsAC	ENSP00000418819.1:p.Glu263=
ENST00000586385.5:c.5-18571_5-18570delinsAC	ENSP00000465818.1:n.5-18571_5-18570delinsAC
ENST00000591534.5:c.-43-8001_-43-8000delinsAC	ENSP00000467329.1:n.-43-8001_-43-8000delinsAC
ENST00000591849.5:c.-98-32332_-98-32331delinsAC	ENSP00000465347.1:n.-98-32332_-98-32331delinsAC
ENST00000621897.1:n.133_134delinsAC
NM_007294.3:c.4239_4240delinsAC , LRG_292t1:c.4239_4240delinsAC	NP_009225.1:p.Glu1413=
NM_007297.3:c.4098_4099delinsAC	NP_009228.2:p.Glu1366=
NM_007298.3:c.930_931delinsAC	NP_009229.2:p.Glu310=
NM_007299.3:c.930_931delinsAC	NP_009230.2:p.Glu310=
NM_007300.3:c.4239_4240delinsAC	NP_009231.2:p.Glu1413=
NR_027676.1:n.4375_4376delinsAC
NM_007294.4:c.4239_4240delinsAC MANE Select	NP_009225.1:p.Glu1413=
NM_007297.4:c.4098_4099delinsAC	NP_009228.2:p.Glu1366=
NM_007299.4:c.930_931delinsAC	NP_009230.2:p.Glu310=
NM_007300.4:c.4239_4240delinsAC	NP_009231.2:p.Glu1413=
NR_027676.2:n.4416_4417delinsAC