Canonical Allele Identifier: CA2260782503

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091996_43091997delinsTG , CM000679.2:g.43091996_43091997delinsTG	GRCh38
NC_000017.10:g.41244013_41244014delinsTG , CM000679.1:g.41244013_41244014delinsTG	GRCh37
NC_000017.9:g.38497539_38497540delinsTG	NCBI36
NG_005905.2:g.125987_125988delinsCA , LRG_292:g.125987_125988delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3598_3599delinsCA
ENST00000461574.2:c.3534_3535delinsCA	ENSP00000417241.2:p.Ser1178=
ENST00000470026.6:c.3534_3535delinsCA	ENSP00000419274.2:p.Ser1178=
ENST00000473961.6:c.3408_3409delinsCA	ENSP00000420201.2:p.Ser1136=
ENST00000476777.6:c.3531_3532delinsCA	ENSP00000417554.2:p.Ser1177=
ENST00000477152.6:c.3456_3457delinsCA	ENSP00000419988.2:p.Ser1152=
ENST00000478531.6:c.785-965_785-964delinsCA	ENSP00000420412.2:n.785-965_785-964delinsCA
ENST00000489037.2:c.3456_3457delinsCA	ENSP00000420781.2:p.Ser1152=
ENST00000493919.6:c.647-965_647-964delinsCA	ENSP00000418819.2:n.647-965_647-964delinsCA
ENST00000494123.6:c.3534_3535delinsCA	ENSP00000419103.2:p.Ser1178=
ENST00000497488.2:c.2646_2647delinsCA	ENSP00000418986.2:p.Ser882=
ENST00000618469.2:c.3534_3535delinsCA	ENSP00000478114.2:p.Ser1178=
ENST00000634433.2:c.3411_3412delinsCA	ENSP00000489431.2:p.Ser1137=
ENST00000644379.2:c.3534_3535delinsCA	ENSP00000496570.2:p.Ser1178=
ENST00000644555.2:c.647-965_647-964delinsCA	ENSP00000494614.2:n.647-965_647-964delinsCA
ENST00000652672.2:c.3393_3394delinsCA	ENSP00000498906.2:p.Ser1131=
ENST00000484087.6:c.665-965_665-964delinsCA	ENSP00000419481.2:n.665-965_665-964delinsCA
ENST00000700182.1:c.707-965_707-964delinsCA	ENSP00000514849.1:n.707-965_707-964delinsCA
ENST00000357654.9:c.3534_3535delinsCA MANE Select	ENSP00000350283.3:p.Ser1178=
ENST00000471181.7:c.3534_3535delinsCA	ENSP00000418960.2:p.Ser1178=
ENST00000352993.7:c.671-965_671-964delinsCA	ENSP00000312236.5:n.671-965_671-964delinsCA
ENST00000354071.7:c.3534_3535delinsCA	ENSP00000326002.7:p.Ser1178=
ENST00000357654.7:c.3534_3535delinsCA	ENSP00000350283.3:p.Ser1178=
ENST00000461221.5:c.*3317_*3318delinsCA	ENSP00000418548.1:n.*3317_*3318delinsCA
ENST00000468300.5:c.788-965_788-964delinsCA	ENSP00000417148.1:n.788-965_788-964delinsCA
ENST00000471181.6:c.3534_3535delinsCA	ENSP00000418960.2:p.Ser1178=
ENST00000478531.5:c.785-965_785-964delinsCA	ENSP00000420412.1:n.785-965_785-964delinsCA
ENST00000484087.5:c.410-965_410-964delinsCA	ENSP00000419481.1:n.410-965_410-964delinsCA
ENST00000487825.5:c.413-965_413-964delinsCA	ENSP00000418212.1:n.413-965_413-964delinsCA
ENST00000491747.6:c.788-965_788-964delinsCA	ENSP00000420705.2:n.788-965_788-964delinsCA
ENST00000493795.5:c.3393_3394delinsCA	ENSP00000418775.1:p.Ser1131=
ENST00000493919.5:c.647-965_647-964delinsCA	ENSP00000418819.1:n.647-965_647-964delinsCA
ENST00000586385.5:c.5-28046_5-28045delinsCA	ENSP00000465818.1:n.5-28046_5-28045delinsCA
ENST00000591534.5:c.-43-17476_-43-17475delinsCA	ENSP00000467329.1:n.-43-17476_-43-17475delinsCA
ENST00000591849.5:c.-99+33274_-99+33275delinsCA	ENSP00000465347.1:n.-99+33274_-99+33275delinsCA
NM_007294.3:c.3534_3535delinsCA , LRG_292t1:c.3534_3535delinsCA	NP_009225.1:p.Ser1178=
NM_007297.3:c.3393_3394delinsCA	NP_009228.2:p.Ser1131=
NM_007298.3:c.788-965_788-964delinsCA	NP_009229.2:n.788-965_788-964delinsCA
NM_007299.3:c.788-965_788-964delinsCA	NP_009230.2:n.788-965_788-964delinsCA
NM_007300.3:c.3534_3535delinsCA	NP_009231.2:p.Ser1178=
NR_027676.1:n.3670_3671delinsCA
NM_007294.4:c.3534_3535delinsCA MANE Select	NP_009225.1:p.Ser1178=
NM_007297.4:c.3393_3394delinsCA	NP_009228.2:p.Ser1131=
NM_007299.4:c.788-965_788-964delinsCA	NP_009230.2:n.788-965_788-964delinsCA
NM_007300.4:c.3534_3535delinsCA	NP_009231.2:p.Ser1178=
NR_027676.2:n.3711_3712delinsCA