Canonical Allele Identifier: CA2499224424

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1074622
• ClinVar RCV Id: RCV001387981
• dbSNP Id: rs2154151012

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082464del , CM000679.2:g.43082464del	GRCh38
NC_000017.10:g.41234481del , CM000679.1:g.41234481del	GRCh37
NC_000017.9:g.38488007del	NCBI36
NG_005905.2:g.135520del , LRG_292:g.135520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4297del	ENSP00000417241.2:p.Ile1433Ter
ENST00000470026.6:c.4297del	ENSP00000419274.2:p.Ile1433Ter
ENST00000473961.6:c.4171del	ENSP00000420201.2:p.Ile1391Ter
ENST00000476777.6:c.4291del	ENSP00000417554.2:p.Ile1431Ter
ENST00000477152.6:c.4219del	ENSP00000419988.2:p.Ile1407Ter
ENST00000478531.6:c.985del	ENSP00000420412.2:p.Ile329Ter
ENST00000489037.2:c.4219del	ENSP00000420781.2:p.Ile1407Ter
ENST00000493919.6:c.847del	ENSP00000418819.2:p.Ile283Ter
ENST00000494123.6:c.4297del	ENSP00000419103.2:p.Ile1433Ter
ENST00000497488.2:c.3409del	ENSP00000418986.2:p.Ile1137Ter
ENST00000618469.2:c.4297del	ENSP00000478114.2:p.Ile1433Ter
ENST00000634433.2:c.4174del	ENSP00000489431.2:p.Ile1392Ter
ENST00000644379.2:c.4297del	ENSP00000496570.2:p.Ile1433Ter
ENST00000644555.2:c.847del	ENSP00000494614.2:p.Ile283Ter
ENST00000652672.2:c.4156del	ENSP00000498906.2:p.Ile1386Ter
ENST00000484087.6:c.862del	ENSP00000419481.2:p.Ile288Ter
ENST00000700182.1:c.907del	ENSP00000514849.1:p.Ile303Ter
ENST00000357654.9:c.4297del MANE Select	ENSP00000350283.3:p.Ile1433Ter
ENST00000471181.7:c.4297del	ENSP00000418960.2:p.Ile1433Ter
ENST00000644379.1:c.618del
ENST00000352993.7:c.871del	ENSP00000312236.5:p.Ile291Ter
ENST00000357654.7:c.4297del	ENSP00000350283.3:p.Ile1433Ter
ENST00000461221.5:c.*4080del	ENSP00000418548.1:n.*4080del
ENST00000461574.1:c.591del
ENST00000468300.5:c.988del	ENSP00000417148.1:p.Ile330Ter
ENST00000471181.6:c.4297del	ENSP00000418960.2:p.Ile1433Ter
ENST00000478531.5:c.985del	ENSP00000420412.1:p.Ile329Ter
ENST00000484087.5:c.610del	ENSP00000419481.1:p.Ile204Ter
ENST00000487825.5:c.613del	ENSP00000418212.1:p.Ile205Ter
ENST00000491747.6:c.988del	ENSP00000420705.2:p.Ile330Ter
ENST00000493795.5:c.4156del	ENSP00000418775.1:p.Ile1386Ter
ENST00000493919.5:c.847del	ENSP00000418819.1:p.Ile283Ter
ENST00000586385.5:c.5-18513del	ENSP00000465818.1:n.5-18513del
ENST00000591534.5:c.-43-7943del	ENSP00000467329.1:n.-43-7943del
ENST00000591849.5:c.-98-32274del	ENSP00000465347.1:n.-98-32274del
ENST00000621897.1:n.191del
NM_007294.3:c.4297del , LRG_292t1:c.4297del	NP_009225.1:p.Ile1433Ter
NM_007297.3:c.4156del	NP_009228.2:p.Ile1386Ter
NM_007298.3:c.988del	NP_009229.2:p.Ile330Ter
NM_007299.3:c.988del	NP_009230.2:p.Ile330Ter
NM_007300.3:c.4297del	NP_009231.2:p.Ile1433Ter
NR_027676.1:n.4433del
NM_007294.4:c.4297del MANE Select	NP_009225.1:p.Ile1433Ter
NM_007297.4:c.4156del	NP_009228.2:p.Ile1386Ter
NM_007299.4:c.988del	NP_009230.2:p.Ile330Ter
NM_007300.4:c.4297del	NP_009231.2:p.Ile1433Ter
NR_027676.2:n.4474del