Canonical Allele Identifier: CA2739265593

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2848722
• ClinVar RCV Id: RCV003644579

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092457_43092532dup , CM000679.2:g.43092457_43092532dup	GRCh38
NC_000017.10:g.41244474_41244549dup , CM000679.1:g.41244474_41244549dup	GRCh37
NC_000017.9:g.38498000_38498075dup	NCBI36
NG_005905.2:g.125453_125528dup , LRG_292:g.125453_125528dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3064_3139dup
ENST00000461574.2:c.3000_3075dup	ENSP00000417241.2:p.Ile1026GlyfsTer4
ENST00000470026.6:c.3000_3075dup	ENSP00000419274.2:p.Ile1026GlyfsTer4
ENST00000473961.6:c.2874_2949dup	ENSP00000420201.2:p.Ile984GlyfsTer4
ENST00000476777.6:c.2997_3072dup	ENSP00000417554.2:p.Ile1025GlyfsTer4
ENST00000477152.6:c.2922_2997dup	ENSP00000419988.2:p.Ile1000GlyfsTer4
ENST00000478531.6:c.785-1499_785-1424dup	ENSP00000420412.2:n.785-1499_785-1424dup
ENST00000489037.2:c.2922_2997dup	ENSP00000420781.2:p.Ile1000GlyfsTer4
ENST00000493919.6:c.647-1499_647-1424dup	ENSP00000418819.2:n.647-1499_647-1424dup
ENST00000494123.6:c.3000_3075dup	ENSP00000419103.2:p.Ile1026GlyfsTer4
ENST00000497488.2:c.2112_2187dup	ENSP00000418986.2:p.Ile730GlyfsTer4
ENST00000618469.2:c.3000_3075dup	ENSP00000478114.2:p.Ile1026GlyfsTer4
ENST00000634433.2:c.2877_2952dup	ENSP00000489431.2:p.Ile985GlyfsTer4
ENST00000644379.2:c.3000_3075dup	ENSP00000496570.2:p.Ile1026GlyfsTer4
ENST00000644555.2:c.647-1499_647-1424dup	ENSP00000494614.2:n.647-1499_647-1424dup
ENST00000652672.2:c.2859_2934dup	ENSP00000498906.2:p.Ile979GlyfsTer4
ENST00000484087.6:c.665-1499_665-1424dup	ENSP00000419481.2:n.665-1499_665-1424dup
ENST00000700182.1:c.707-1499_707-1424dup	ENSP00000514849.1:n.707-1499_707-1424dup
ENST00000357654.9:c.3000_3075dup MANE Select	ENSP00000350283.3:p.Ile1026GlyfsTer4
ENST00000471181.7:c.3000_3075dup	ENSP00000418960.2:p.Ile1026GlyfsTer4
ENST00000352993.7:c.671-1499_671-1424dup	ENSP00000312236.5:n.671-1499_671-1424dup
ENST00000354071.7:c.3000_3075dup	ENSP00000326002.7:p.Ile1026GlyfsTer4
ENST00000357654.7:c.3000_3075dup	ENSP00000350283.3:p.Ile1026GlyfsTer4
ENST00000461221.5:c.*2783_*2858dup	ENSP00000418548.1:n.*2783_*2858dup
ENST00000468300.5:c.788-1499_788-1424dup	ENSP00000417148.1:n.788-1499_788-1424dup
ENST00000471181.6:c.3000_3075dup	ENSP00000418960.2:p.Ile1026GlyfsTer4
ENST00000478531.5:c.785-1499_785-1424dup	ENSP00000420412.1:n.785-1499_785-1424dup
ENST00000484087.5:c.410-1499_410-1424dup	ENSP00000419481.1:n.410-1499_410-1424dup
ENST00000487825.5:c.413-1499_413-1424dup	ENSP00000418212.1:n.413-1499_413-1424dup
ENST00000491747.6:c.788-1499_788-1424dup	ENSP00000420705.2:n.788-1499_788-1424dup
ENST00000493795.5:c.2859_2934dup	ENSP00000418775.1:p.Ile979GlyfsTer4
ENST00000493919.5:c.647-1499_647-1424dup	ENSP00000418819.1:n.647-1499_647-1424dup
ENST00000586385.5:c.5-28580_5-28505dup	ENSP00000465818.1:n.5-28580_5-28505dup
ENST00000591534.5:c.-43-18010_-43-17935dup	ENSP00000467329.1:n.-43-18010_-43-17935dup
ENST00000591849.5:c.-99+32740_-99+32815dup	ENSP00000465347.1:n.-99+32740_-99+32815dup
NM_007294.3:c.3000_3075dup , LRG_292t1:c.3000_3075dup	NP_009225.1:p.Ile1026GlyfsTer4
NM_007297.3:c.2859_2934dup	NP_009228.2:p.Ile979GlyfsTer4
NM_007298.3:c.788-1499_788-1424dup	NP_009229.2:n.788-1499_788-1424dup
NM_007299.3:c.788-1499_788-1424dup	NP_009230.2:n.788-1499_788-1424dup
NM_007300.3:c.3000_3075dup	NP_009231.2:p.Ile1026GlyfsTer4
NR_027676.1:n.3136_3211dup
NM_007294.4:c.3000_3075dup MANE Select	NP_009225.1:p.Ile1026GlyfsTer4
NM_007297.4:c.2859_2934dup	NP_009228.2:p.Ile979GlyfsTer4
NM_007299.4:c.788-1499_788-1424dup	NP_009230.2:n.788-1499_788-1424dup
NM_007300.4:c.3000_3075dup	NP_009231.2:p.Ile1026GlyfsTer4
NR_027676.2:n.3177_3252dup