Canonical Allele Identifier: CA2260761987

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047658_43047660delinsCCT , CM000679.2:g.43047658_43047660delinsCCT	GRCh38
NC_000017.10:g.41199675_41199677delinsCCT , CM000679.1:g.41199675_41199677delinsCCT	GRCh37
NC_000017.9:g.38453201_38453203delinsCCT	NCBI36
NG_005905.2:g.170324_170326delinsAGG , LRG_292:g.170324_170326delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5447_5449delinsAGG	ENSP00000417241.2:p.Glu1816=
ENST00000470026.6:c.5450_5452delinsAGG	ENSP00000419274.2:p.Glu1817=
ENST00000473961.6:c.5324_5326delinsAGG	ENSP00000420201.2:p.Glu1775=
ENST00000476777.6:c.5444_5446delinsAGG	ENSP00000417554.2:p.Glu1815=
ENST00000477152.6:c.5372_5374delinsAGG	ENSP00000419988.2:p.Glu1791=
ENST00000478531.6:c.2138_2140delinsAGG	ENSP00000420412.2:p.Glu713=
ENST00000489037.2:c.5372_5374delinsAGG	ENSP00000420781.2:p.Glu1791=
ENST00000493919.6:c.2000_2002delinsAGG	ENSP00000418819.2:p.Glu667=
ENST00000494123.6:c.5450_5452delinsAGG	ENSP00000419103.2:p.Glu1817=
ENST00000497488.2:c.4562_4564delinsAGG	ENSP00000418986.2:p.Glu1521=
ENST00000618469.2:c.5450_5452delinsAGG	ENSP00000478114.2:p.Glu1817=
ENST00000634433.2:c.5327_5329delinsAGG	ENSP00000489431.2:p.Glu1776=
ENST00000644379.2:c.5516_5518delinsAGG	ENSP00000496570.2:p.Glu1839=
ENST00000644555.2:c.2000_2002delinsAGG	ENSP00000494614.2:p.Glu667=
ENST00000652672.2:c.5309_5311delinsAGG	ENSP00000498906.2:p.Glu1770=
ENST00000484087.6:c.2012_2014delinsAGG	ENSP00000419481.2:p.Glu671=
ENST00000700081.1:n.1333_1335delinsAGG
ENST00000700082.1:n.814_816delinsAGG
ENST00000357654.9:c.5450_5452delinsAGG MANE Select	ENSP00000350283.3:p.Glu1817=
ENST00000471181.7:c.5513_5515delinsAGG	ENSP00000418960.2:p.Glu1838=
ENST00000644379.1:c.1837_1839delinsAGG
ENST00000352993.7:c.2024_2026delinsAGG	ENSP00000312236.5:p.Glu675=
ENST00000357654.7:c.5450_5452delinsAGG	ENSP00000350283.3:p.Glu1817=
ENST00000461221.5:c.*5233_*5235delinsAGG	ENSP00000418548.1:n.*5233_*5235delinsAGG
ENST00000468300.5:c.2064_2066delinsAGG	ENSP00000417148.1:p.Arg688=
ENST00000471181.6:c.5513_5515delinsAGG	ENSP00000418960.2:p.Glu1838=
ENST00000491747.6:c.2138_2140delinsAGG	ENSP00000420705.2:p.Glu713=
ENST00000493795.5:c.5309_5311delinsAGG	ENSP00000418775.1:p.Glu1770=
ENST00000586385.5:c.380_382delinsAGG	ENSP00000465818.1:p.Glu127=
ENST00000591534.5:c.923_925delinsAGG	ENSP00000467329.1:p.Glu308=
ENST00000591849.5:c.149_151delinsAGG	ENSP00000465347.1:p.Glu50=
NM_007294.3:c.5450_5452delinsAGG , LRG_292t1:c.5450_5452delinsAGG	NP_009225.1:p.Glu1817=
NM_007297.3:c.5309_5311delinsAGG	NP_009228.2:p.Glu1770=
NM_007298.3:c.2138_2140delinsAGG	NP_009229.2:p.Glu713=
NM_007299.3:c.2064_2066delinsAGG	NP_009230.2:p.Arg688=
NM_007300.3:c.5513_5515delinsAGG	NP_009231.2:p.Glu1838=
NR_027676.1:n.5586_5588delinsAGG
NM_007294.4:c.5450_5452delinsAGG MANE Select	NP_009225.1:p.Glu1817=
NM_007297.4:c.5309_5311delinsAGG	NP_009228.2:p.Glu1770=
NM_007299.4:c.2064_2066delinsAGG	NP_009230.2:p.Arg688=
NM_007300.4:c.5513_5515delinsAGG	NP_009231.2:p.Glu1838=
NR_027676.2:n.5627_5629delinsAGG