Canonical Allele Identifier: CA273822

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082274_43082543dup , CM000679.2:g.43082274_43082543dup	GRCh38
NC_000017.10:g.41234291_41234560dup , CM000679.1:g.41234291_41234560dup	GRCh37
NC_000017.9:g.38487817_38488086dup	NCBI36
NG_005905.2:g.135441_135710dup , LRG_292:g.135441_135710dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4218_4357+130dup
ENST00000470026.6:c.4218_4357+130dup
ENST00000473961.6:c.4092_4231+130dup
ENST00000476777.6:c.4212_4351+130dup
ENST00000477152.6:c.4140_4279+130dup
ENST00000478531.6:c.906_1045+130dup
ENST00000489037.2:c.4140_4279+130dup
ENST00000493919.6:c.768_907+130dup
ENST00000494123.6:c.4218_4357+130dup
ENST00000497488.2:c.3330_3469+130dup
ENST00000618469.2:c.4218_4357+130dup
ENST00000634433.2:c.4095_4234+130dup
ENST00000644379.2:c.4218_4357+130dup
ENST00000644555.2:c.768_907+130dup
ENST00000652672.2:c.4077_4216+130dup
ENST00000484087.6:c.783_922+130dup
ENST00000700182.1:c.828_967+130dup
ENST00000357654.9:c.4218_4357+130dup
ENST00000471181.7:c.4218_4357+130dup
ENST00000644379.1:c.539_678+130dup
ENST00000352993.7:c.792_931+130dup
ENST00000357654.7:c.4218_4357+130dup
ENST00000461221.5:c.*4001_*4140+130dup
ENST00000461574.1:c.512_651+130dup
ENST00000468300.5:c.909_1048+130dup
ENST00000471181.6:c.4218_4357+130dup
ENST00000478531.5:c.906_1045+130dup
ENST00000484087.5:c.531_670+130dup
ENST00000487825.5:c.534_673+130dup
ENST00000491747.6:c.909_1048+130dup
ENST00000493795.5:c.4077_4216+130dup
ENST00000493919.5:c.768_907+130dup
ENST00000586385.5:c.5-18592_5-18323dup	ENSP00000465818.1:n.5-18592_5-18323dup
ENST00000591534.5:c.-43-8022_-43-7753dup	ENSP00000467329.1:n.-43-8022_-43-7753dup
ENST00000591849.5:c.-98-32353_-98-32084dup	ENSP00000465347.1:n.-98-32353_-98-32084du...
ENST00000621897.1:n.112_251+130dup
NM_007294.3:c.4218_4357+130dup , LRG_292t1:c.4218_4357+130dup
NM_007297.3:c.4077_4216+130dup
NM_007298.3:c.909_1048+130dup
NM_007299.3:c.909_1048+130dup
NM_007300.3:c.4218_4357+130dup
NR_027676.1:n.4354_4493+130dup
NM_007294.4:c.4218_4357+130dup
NM_007297.4:c.4077_4216+130dup
NM_007299.4:c.909_1048+130dup
NM_007300.4:c.4218_4357+130dup
NR_027676.2:n.4395_4534+130dup