Canonical Allele Identifier: CA002715

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125698
• ClinVar RCV Id: RCV000112298 ; RCV001271021
• dbSNP Id: rs273900728
• MyVariant Identifiers: chr17:g.41234564del (hg19) ; chr17:g.43082547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082547del , CM000679.2:g.43082547del	GRCh38
NC_000017.10:g.41234564del , CM000679.1:g.41234564del	GRCh37
NC_000017.9:g.38488090del	NCBI36
NG_005905.2:g.135437del , LRG_292:g.135437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4214del	ENSP00000417241.2:p.Ile1405LysfsTer10
ENST00000470026.6:c.4214del	ENSP00000419274.2:p.Ile1405LysfsTer10
ENST00000473961.6:c.4088del	ENSP00000420201.2:p.Ile1363LysfsTer10
ENST00000476777.6:c.4208del	ENSP00000417554.2:p.Ile1403LysfsTer10
ENST00000477152.6:c.4136del	ENSP00000419988.2:p.Ile1379LysfsTer10
ENST00000478531.6:c.902del	ENSP00000420412.2:p.Ile301LysfsTer10
ENST00000489037.2:c.4136del	ENSP00000420781.2:p.Ile1379LysfsTer10
ENST00000493919.6:c.764del	ENSP00000418819.2:p.Ile255LysfsTer10
ENST00000494123.6:c.4214del	ENSP00000419103.2:p.Ile1405LysfsTer10
ENST00000497488.2:c.3326del	ENSP00000418986.2:p.Ile1109LysfsTer10
ENST00000618469.2:c.4214del	ENSP00000478114.2:p.Ile1405LysfsTer10
ENST00000634433.2:c.4091del	ENSP00000489431.2:p.Ile1364LysfsTer10
ENST00000644379.2:c.4214del	ENSP00000496570.2:p.Ile1405LysfsTer10
ENST00000644555.2:c.764del	ENSP00000494614.2:p.Ile255LysfsTer10
ENST00000652672.2:c.4073del	ENSP00000498906.2:p.Ile1358LysfsTer10
ENST00000484087.6:c.779del	ENSP00000419481.2:p.Ile260LysfsTer10
ENST00000700182.1:c.824del	ENSP00000514849.1:p.Ile275LysfsTer10
ENST00000357654.9:c.4214del MANE Select	ENSP00000350283.3:p.Ile1405LysfsTer10
ENST00000471181.7:c.4214del	ENSP00000418960.2:p.Ile1405LysfsTer10
ENST00000644379.1:c.535del
ENST00000352993.7:c.788del	ENSP00000312236.5:p.Ile263LysfsTer10
ENST00000357654.7:c.4214del	ENSP00000350283.3:p.Ile1405LysfsTer10
ENST00000461221.5:c.*3997del	ENSP00000418548.1:n.*3997del
ENST00000461574.1:c.508del
ENST00000468300.5:c.905del	ENSP00000417148.1:p.Ile302LysfsTer10
ENST00000471181.6:c.4214del	ENSP00000418960.2:p.Ile1405LysfsTer10
ENST00000478531.5:c.902del	ENSP00000420412.1:p.Ile301LysfsTer10
ENST00000484087.5:c.527del	ENSP00000419481.1:p.Ile176LysfsTer10
ENST00000487825.5:c.530del	ENSP00000418212.1:p.Ile177LysfsTer10
ENST00000491747.6:c.905del	ENSP00000420705.2:p.Ile302LysfsTer10
ENST00000493795.5:c.4073del	ENSP00000418775.1:p.Ile1358LysfsTer10
ENST00000493919.5:c.764del	ENSP00000418819.1:p.Ile255LysfsTer10
ENST00000586385.5:c.5-18596del	ENSP00000465818.1:n.5-18596del
ENST00000591534.5:c.-43-8026del	ENSP00000467329.1:n.-43-8026del
ENST00000591849.5:c.-98-32357del	ENSP00000465347.1:n.-98-32357del
ENST00000621897.1:n.108del
NM_007294.3:c.4214del , LRG_292t1:c.4214del	NP_009225.1:p.Ile1405LysfsTer10
NM_007297.3:c.4073del	NP_009228.2:p.Ile1358LysfsTer10
NM_007298.3:c.905del	NP_009229.2:p.Ile302LysfsTer10
NM_007299.3:c.905del	NP_009230.2:p.Ile302LysfsTer10
NM_007300.3:c.4214del	NP_009231.2:p.Ile1405LysfsTer10
NR_027676.1:n.4350del
NM_007294.4:c.4214del MANE Select	NP_009225.1:p.Ile1405LysfsTer10
NM_007297.4:c.4073del	NP_009228.2:p.Ile1358LysfsTer10
NM_007299.4:c.905del	NP_009230.2:p.Ile302LysfsTer10
NM_007300.4:c.4214del	NP_009231.2:p.Ile1405LysfsTer10
NR_027676.2:n.4391del