Canonical Allele Identifier: CA2580094144

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740399
• ClinVar RCV Id: RCV002333818

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43099071_43102393dup , CM000679.2:g.43099071_43102393dup	GRCh38
NC_000017.10:g.41251088_41254410dup , CM000679.1:g.41251088_41254410dup	GRCh37
NC_000017.9:g.38504614_38507936dup	NCBI36
NG_005905.2:g.115591_118913dup , LRG_292:g.115591_118913dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.505+1729_611+704dup
ENST00000461574.2:c.441+1729_547+704dup
ENST00000470026.6:c.441+1729_547+704dup
ENST00000473961.6:c.441+1729_544+704dup
ENST00000476777.6:c.441+1729_544+704dup
ENST00000477152.6:c.363+1729_469+704dup
ENST00000478531.6:c.441+1729_544+704dup
ENST00000489037.2:c.363+1729_469+704dup
ENST00000493919.6:c.300+1729_406+704dup
ENST00000494123.6:c.441+1729_547+704dup
ENST00000497488.2:c.-218-7533_-218-4211dup	ENSP00000418986.2:n.-218-7533_-218-4211du...
ENST00000618469.2:c.441+1729_547+704dup
ENST00000634433.2:c.441+1729_547+704dup
ENST00000644379.2:c.441+1729_547+704dup
ENST00000644555.2:c.300+1729_406+704dup
ENST00000652672.2:c.300+1729_406+704dup
ENST00000484087.6:c.441+1729_547+704dup
ENST00000700182.1:c.363+1729_466+704dup
ENST00000700183.1:c.*355+1729_*461+704dup
ENST00000357654.9:c.441+1729_547+704dup
ENST00000471181.7:c.441+1729_547+704dup
ENST00000642945.1:c.*315+1729_*421+704dup
ENST00000652672.1:c.300+1729_406+704dup
ENST00000352993.7:c.441+1729_547+704dup
ENST00000354071.7:c.441+1729_547+704dup
ENST00000357654.7:c.441+1729_547+704dup
ENST00000461221.5:c.*227+1729_*330+704dup
ENST00000468300.5:c.441+1729_547+704dup
ENST00000470026.5:c.441+1729_547+704dup
ENST00000471181.6:c.441+1729_547+704dup
ENST00000473961.5:c.164+1729_267+704dup
ENST00000476777.5:c.441+1729_544+704dup
ENST00000477152.5:c.363+1729_469+704dup
ENST00000478531.5:c.441+1729_544+704dup
ENST00000484087.5:c.189+1729_292+704dup
ENST00000487825.5:c.189+1729_295+704dup
ENST00000491747.6:c.441+1729_547+704dup
ENST00000492859.5:c.*377+1729_*483+704dup
ENST00000493795.5:c.300+1729_406+704dup
ENST00000493919.5:c.300+1729_406+704dup
ENST00000494123.5:c.441+1729_547+704dup
ENST00000497488.1:c.-218-7533_-218-4211dup	ENSP00000418986.1:n.-218-7533_-218-4211du...
ENST00000586385.5:c.4+22789_4+26111dup	ENSP00000465818.1:n.4+22789_4+26111dup
ENST00000591534.5:c.-44+22878_-43-24550dup	ENSP00000467329.1:n.-44+22878_-43-24550du...
ENST00000591849.5:c.-99+22878_-99+26200dup	ENSP00000465347.1:n.-99+22878_-99+26200du...
ENST00000634433.1:c.441+1729_547+704dup
NM_007294.3:c.441+1729_547+704dup , LRG_292t1:c.441+1729_547+704dup
NM_007297.3:c.300+1729_406+704dup
NM_007298.3:c.441+1729_547+704dup
NM_007299.3:c.441+1729_547+704dup
NM_007300.3:c.441+1729_547+704dup
NR_027676.1:n.580+1729_683+704dup
NM_007294.4:c.441+1729_547+704dup
NM_007297.4:c.300+1729_406+704dup
NM_007299.4:c.441+1729_547+704dup
NM_007300.4:c.441+1729_547+704dup
NR_027676.2:n.621+1729_724+704dup