Canonical Allele Identifier: CA2260783421

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092768_43092769delinsCT , CM000679.2:g.43092768_43092769delinsCT	GRCh38
NC_000017.10:g.41244785_41244786delinsCT , CM000679.1:g.41244785_41244786delinsCT	GRCh37
NC_000017.9:g.38498311_38498312delinsCT	NCBI36
NG_005905.2:g.125215_125216delinsAG , LRG_292:g.125215_125216delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2826_2827delinsAG
ENST00000461574.2:c.2762_2763delinsAG	ENSP00000417241.2:p.Gln921=
ENST00000470026.6:c.2762_2763delinsAG	ENSP00000419274.2:p.Gln921=
ENST00000473961.6:c.2636_2637delinsAG	ENSP00000420201.2:p.Gln879=
ENST00000476777.6:c.2759_2760delinsAG	ENSP00000417554.2:p.Gln920=
ENST00000477152.6:c.2684_2685delinsAG	ENSP00000419988.2:p.Gln895=
ENST00000478531.6:c.785-1737_785-1736delinsAG	ENSP00000420412.2:n.785-1737_785-1736deli...
ENST00000489037.2:c.2684_2685delinsAG	ENSP00000420781.2:p.Gln895=
ENST00000493919.6:c.647-1737_647-1736delinsAG	ENSP00000418819.2:n.647-1737_647-1736deli...
ENST00000494123.6:c.2762_2763delinsAG	ENSP00000419103.2:p.Gln921=
ENST00000497488.2:c.1874_1875delinsAG	ENSP00000418986.2:p.Gln625=
ENST00000618469.2:c.2762_2763delinsAG	ENSP00000478114.2:p.Gln921=
ENST00000634433.2:c.2639_2640delinsAG	ENSP00000489431.2:p.Gln880=
ENST00000644379.2:c.2762_2763delinsAG	ENSP00000496570.2:p.Gln921=
ENST00000644555.2:c.647-1737_647-1736delinsAG	ENSP00000494614.2:n.647-1737_647-1736deli...
ENST00000652672.2:c.2621_2622delinsAG	ENSP00000498906.2:p.Gln874=
ENST00000484087.6:c.665-1737_665-1736delinsAG	ENSP00000419481.2:n.665-1737_665-1736deli...
ENST00000700182.1:c.707-1737_707-1736delinsAG	ENSP00000514849.1:n.707-1737_707-1736deli...
ENST00000357654.9:c.2762_2763delinsAG MANE Select	ENSP00000350283.3:p.Gln921=
ENST00000471181.7:c.2762_2763delinsAG	ENSP00000418960.2:p.Gln921=
ENST00000352993.7:c.671-1737_671-1736delinsAG	ENSP00000312236.5:n.671-1737_671-1736deli...
ENST00000354071.7:c.2762_2763delinsAG	ENSP00000326002.7:p.Gln921=
ENST00000357654.7:c.2762_2763delinsAG	ENSP00000350283.3:p.Gln921=
ENST00000461221.5:c.*2545_*2546delinsAG	ENSP00000418548.1:n.*2545_*2546delinsAG
ENST00000468300.5:c.788-1737_788-1736delinsAG	ENSP00000417148.1:n.788-1737_788-1736deli...
ENST00000471181.6:c.2762_2763delinsAG	ENSP00000418960.2:p.Gln921=
ENST00000478531.5:c.785-1737_785-1736delinsAG	ENSP00000420412.1:n.785-1737_785-1736deli...
ENST00000484087.5:c.410-1737_410-1736delinsAG	ENSP00000419481.1:n.410-1737_410-1736deli...
ENST00000487825.5:c.413-1737_413-1736delinsAG	ENSP00000418212.1:n.413-1737_413-1736deli...
ENST00000491747.6:c.788-1737_788-1736delinsAG	ENSP00000420705.2:n.788-1737_788-1736deli...
ENST00000493795.5:c.2621_2622delinsAG	ENSP00000418775.1:p.Gln874=
ENST00000493919.5:c.647-1737_647-1736delinsAG	ENSP00000418819.1:n.647-1737_647-1736deli...
ENST00000586385.5:c.5-28818_5-28817delinsAG	ENSP00000465818.1:n.5-28818_5-28817delins...
ENST00000591534.5:c.-43-18248_-43-18247delinsAG	ENSP00000467329.1:n.-43-18248_-43-18247de...
ENST00000591849.5:c.-99+32502_-99+32503delinsAG	ENSP00000465347.1:n.-99+32502_-99+32503de...
NM_007294.3:c.2762_2763delinsAG , LRG_292t1:c.2762_2763delinsAG	NP_009225.1:p.Gln921=
NM_007297.3:c.2621_2622delinsAG	NP_009228.2:p.Gln874=
NM_007298.3:c.788-1737_788-1736delinsAG	NP_009229.2:n.788-1737_788-1736delinsAG
NM_007299.3:c.788-1737_788-1736delinsAG	NP_009230.2:n.788-1737_788-1736delinsAG
NM_007300.3:c.2762_2763delinsAG	NP_009231.2:p.Gln921=
NR_027676.1:n.2898_2899delinsAG
NM_007294.4:c.2762_2763delinsAG MANE Select	NP_009225.1:p.Gln921=
NM_007297.4:c.2621_2622delinsAG	NP_009228.2:p.Gln874=
NM_007299.4:c.788-1737_788-1736delinsAG	NP_009230.2:n.788-1737_788-1736delinsAG
NM_007300.4:c.2762_2763delinsAG	NP_009231.2:p.Gln921=
NR_027676.2:n.2939_2940delinsAG