Canonical Allele Identifier: CA2260782532

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092027_43092028delinsAT , CM000679.2:g.43092027_43092028delinsAT	GRCh38
NC_000017.10:g.41244044_41244045delinsAT , CM000679.1:g.41244044_41244045delinsAT	GRCh37
NC_000017.9:g.38497570_38497571delinsAT	NCBI36
NG_005905.2:g.125956_125957delinsAT , LRG_292:g.125956_125957delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3567_3568delinsAT
ENST00000461574.2:c.3503_3504delinsAT	ENSP00000417241.2:p.Asn1168=
ENST00000470026.6:c.3503_3504delinsAT	ENSP00000419274.2:p.Asn1168=
ENST00000473961.6:c.3377_3378delinsAT	ENSP00000420201.2:p.Asn1126=
ENST00000476777.6:c.3500_3501delinsAT	ENSP00000417554.2:p.Asn1167=
ENST00000477152.6:c.3425_3426delinsAT	ENSP00000419988.2:p.Asn1142=
ENST00000478531.6:c.785-996_785-995delinsAT	ENSP00000420412.2:n.785-996_785-995delinsAT
ENST00000489037.2:c.3425_3426delinsAT	ENSP00000420781.2:p.Asn1142=
ENST00000493919.6:c.647-996_647-995delinsAT	ENSP00000418819.2:n.647-996_647-995delinsAT
ENST00000494123.6:c.3503_3504delinsAT	ENSP00000419103.2:p.Asn1168=
ENST00000497488.2:c.2615_2616delinsAT	ENSP00000418986.2:p.Asn872=
ENST00000618469.2:c.3503_3504delinsAT	ENSP00000478114.2:p.Asn1168=
ENST00000634433.2:c.3380_3381delinsAT	ENSP00000489431.2:p.Asn1127=
ENST00000644379.2:c.3503_3504delinsAT	ENSP00000496570.2:p.Asn1168=
ENST00000644555.2:c.647-996_647-995delinsAT	ENSP00000494614.2:n.647-996_647-995delinsAT
ENST00000652672.2:c.3362_3363delinsAT	ENSP00000498906.2:p.Asn1121=
ENST00000484087.6:c.665-996_665-995delinsAT	ENSP00000419481.2:n.665-996_665-995delinsAT
ENST00000700182.1:c.707-996_707-995delinsAT	ENSP00000514849.1:n.707-996_707-995delinsAT
ENST00000357654.9:c.3503_3504delinsAT MANE Select	ENSP00000350283.3:p.Asn1168=
ENST00000471181.7:c.3503_3504delinsAT	ENSP00000418960.2:p.Asn1168=
ENST00000352993.7:c.671-996_671-995delinsAT	ENSP00000312236.5:n.671-996_671-995delinsAT
ENST00000354071.7:c.3503_3504delinsAT	ENSP00000326002.7:p.Asn1168=
ENST00000357654.7:c.3503_3504delinsAT	ENSP00000350283.3:p.Asn1168=
ENST00000461221.5:c.*3286_*3287delinsAT	ENSP00000418548.1:n.*3286_*3287delinsAT
ENST00000468300.5:c.788-996_788-995delinsAT	ENSP00000417148.1:n.788-996_788-995delinsAT
ENST00000471181.6:c.3503_3504delinsAT	ENSP00000418960.2:p.Asn1168=
ENST00000478531.5:c.785-996_785-995delinsAT	ENSP00000420412.1:n.785-996_785-995delinsAT
ENST00000484087.5:c.410-996_410-995delinsAT	ENSP00000419481.1:n.410-996_410-995delinsAT
ENST00000487825.5:c.413-996_413-995delinsAT	ENSP00000418212.1:n.413-996_413-995delinsAT
ENST00000491747.6:c.788-996_788-995delinsAT	ENSP00000420705.2:n.788-996_788-995delinsAT
ENST00000493795.5:c.3362_3363delinsAT	ENSP00000418775.1:p.Asn1121=
ENST00000493919.5:c.647-996_647-995delinsAT	ENSP00000418819.1:n.647-996_647-995delinsAT
ENST00000586385.5:c.5-28077_5-28076delinsAT	ENSP00000465818.1:n.5-28077_5-28076delinsAT
ENST00000591534.5:c.-43-17507_-43-17506delinsAT	ENSP00000467329.1:n.-43-17507_-43-17506delinsAT
ENST00000591849.5:c.-99+33243_-99+33244delinsAT	ENSP00000465347.1:n.-99+33243_-99+33244delinsAT
NM_007294.3:c.3503_3504delinsAT , LRG_292t1:c.3503_3504delinsAT	NP_009225.1:p.Asn1168=
NM_007297.3:c.3362_3363delinsAT	NP_009228.2:p.Asn1121=
NM_007298.3:c.788-996_788-995delinsAT	NP_009229.2:n.788-996_788-995delinsAT
NM_007299.3:c.788-996_788-995delinsAT	NP_009230.2:n.788-996_788-995delinsAT
NM_007300.3:c.3503_3504delinsAT	NP_009231.2:p.Asn1168=
NR_027676.1:n.3639_3640delinsAT
NM_007294.4:c.3503_3504delinsAT MANE Select	NP_009225.1:p.Asn1168=
NM_007297.4:c.3362_3363delinsAT	NP_009228.2:p.Asn1121=
NM_007299.4:c.788-996_788-995delinsAT	NP_009230.2:n.788-996_788-995delinsAT
NM_007300.4:c.3503_3504delinsAT	NP_009231.2:p.Asn1168=
NR_027676.2:n.3680_3681delinsAT