Canonical Allele Identifier: CA2260762924

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049426_43049429delinsTAAG , CM000679.2:g.43049426_43049429delinsTAAG	GRCh38
NC_000017.10:g.41201443_41201446delinsTAAG , CM000679.1:g.41201443_41201446delinsTAAG	GRCh37
NC_000017.9:g.38454969_38454972delinsTAAG	NCBI36
NG_005905.2:g.168555_168558delinsCTTA , LRG_292:g.168555_168558delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-235_5330-232delinsCTTA	ENSP00000417241.2:n.5330-235_5330-232delinsCTTA
ENST00000470026.6:c.5333-235_5333-232delinsCTTA	ENSP00000419274.2:n.5333-235_5333-232delinsCTTA
ENST00000473961.6:c.5207-235_5207-232delinsCTTA	ENSP00000420201.2:n.5207-235_5207-232delinsCTTA
ENST00000476777.6:c.5327-235_5327-232delinsCTTA	ENSP00000417554.2:n.5327-235_5327-232delinsCTTA
ENST00000477152.6:c.5255-235_5255-232delinsCTTA	ENSP00000419988.2:n.5255-235_5255-232delinsCTTA
ENST00000478531.6:c.2021-235_2021-232delinsCTTA	ENSP00000420412.2:n.2021-235_2021-232delinsCTTA
ENST00000489037.2:c.5255-235_5255-232delinsCTTA	ENSP00000420781.2:n.5255-235_5255-232delinsCTTA
ENST00000493919.6:c.1883-235_1883-232delinsCTTA	ENSP00000418819.2:n.1883-235_1883-232delinsCTTA
ENST00000494123.6:c.5333-235_5333-232delinsCTTA	ENSP00000419103.2:n.5333-235_5333-232delinsCTTA
ENST00000497488.2:c.4445-235_4445-232delinsCTTA	ENSP00000418986.2:n.4445-235_4445-232delinsCTTA
ENST00000618469.2:c.5333-235_5333-232delinsCTTA	ENSP00000478114.2:n.5333-235_5333-232delinsCTTA
ENST00000634433.2:c.5210-235_5210-232delinsCTTA	ENSP00000489431.2:n.5210-235_5210-232delinsCTTA
ENST00000644379.2:c.5399-235_5399-232delinsCTTA	ENSP00000496570.2:n.5399-235_5399-232delinsCTTA
ENST00000644555.2:c.1883-235_1883-232delinsCTTA	ENSP00000494614.2:n.1883-235_1883-232delinsCTTA
ENST00000652672.2:c.5192-235_5192-232delinsCTTA	ENSP00000498906.2:n.5192-235_5192-232delinsCTTA
ENST00000484087.6:c.1895-235_1895-232delinsCTTA	ENSP00000419481.2:n.1895-235_1895-232delinsCTTA
ENST00000700081.1:n.981_984delinsCTTA
ENST00000357654.9:c.5333-235_5333-232delinsCTTA MANE Select	ENSP00000350283.3:n.5333-235_5333-232delinsCTTA
ENST00000471181.7:c.5396-235_5396-232delinsCTTA	ENSP00000418960.2:n.5396-235_5396-232delinsCTTA
ENST00000644379.1:c.1720-235_1720-232delinsCTTA
ENST00000352993.7:c.1907-235_1907-232delinsCTTA	ENSP00000312236.5:n.1907-235_1907-232delinsCTTA
ENST00000357654.7:c.5333-235_5333-232delinsCTTA	ENSP00000350283.3:n.5333-235_5333-232delinsCTTA
ENST00000461221.5:c.*5116-235_*5116-232delinsCTTA	ENSP00000418548.1:n.*5116-235_*5116-232delinsCTTA
ENST00000468300.5:c.2020+1634_2020+1637delinsCTTA	ENSP00000417148.1:n.2020+1634_2020+1637delinsCTTA
ENST00000471181.6:c.5396-235_5396-232delinsCTTA	ENSP00000418960.2:n.5396-235_5396-232delinsCTTA
ENST00000491747.6:c.2021-235_2021-232delinsCTTA	ENSP00000420705.2:n.2021-235_2021-232delinsCTTA
ENST00000493795.5:c.5192-235_5192-232delinsCTTA	ENSP00000418775.1:n.5192-235_5192-232delinsCTTA
ENST00000586385.5:c.263-235_263-232delinsCTTA	ENSP00000465818.1:n.263-235_263-232delinsCTTA
ENST00000591534.5:c.806-235_806-232delinsCTTA	ENSP00000467329.1:n.806-235_806-232delinsCTTA
ENST00000591849.5:c.32-235_32-232delinsCTTA	ENSP00000465347.1:n.32-235_32-232delinsCTTA
NM_007294.3:c.5333-235_5333-232delinsCTTA , LRG_292t1:c.5333-235_5333-232delinsCTTA	NP_009225.1:n.5333-235_5333-232delinsCTTA
NM_007297.3:c.5192-235_5192-232delinsCTTA	NP_009228.2:n.5192-235_5192-232delinsCTTA
NM_007298.3:c.2021-235_2021-232delinsCTTA	NP_009229.2:n.2021-235_2021-232delinsCTTA
NM_007299.3:c.2020+1634_2020+1637delinsCTTA	NP_009230.2:n.2020+1634_2020+1637delinsCTTA
NM_007300.3:c.5396-235_5396-232delinsCTTA	NP_009231.2:n.5396-235_5396-232delinsCTTA
NR_027676.1:n.5469-235_5469-232delinsCTTA
NM_007294.4:c.5333-235_5333-232delinsCTTA MANE Select	NP_009225.1:n.5333-235_5333-232delinsCTTA
NM_007297.4:c.5192-235_5192-232delinsCTTA	NP_009228.2:n.5192-235_5192-232delinsCTTA
NM_007299.4:c.2020+1634_2020+1637delinsCTTA	NP_009230.2:n.2020+1634_2020+1637delinsCTTA
NM_007300.4:c.5396-235_5396-232delinsCTTA	NP_009231.2:n.5396-235_5396-232delinsCTTA
NR_027676.2:n.5510-235_5510-232delinsCTTA