Canonical Allele Identifier: CA002762

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55165
• ClinVar RCV Id: RCV000577582 ; RCV000661374
• dbSNP Id: rs397509161
• MyVariant Identifiers: chr17:g.41234470_41234471del (hg19) ; chr17:g.43082453_43082454del (hg38)
• PubMed: PMID:18528753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082455_43082456del , CM000679.2:g.43082455_43082456del	GRCh38
NC_000017.10:g.41234472_41234473del , CM000679.1:g.41234472_41234473del	GRCh37
NC_000017.9:g.38487998_38487999del	NCBI36
NG_005905.2:g.135530_135531del , LRG_292:g.135530_135531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4307_4308del	ENSP00000417241.2:p.Ser1436PhefsTer4
ENST00000470026.6:c.4307_4308del	ENSP00000419274.2:p.Ser1436PhefsTer4
ENST00000473961.6:c.4181_4182del	ENSP00000420201.2:p.Ser1394PhefsTer4
ENST00000476777.6:c.4301_4302del	ENSP00000417554.2:p.Ser1434PhefsTer4
ENST00000477152.6:c.4229_4230del	ENSP00000419988.2:p.Ser1410PhefsTer4
ENST00000478531.6:c.995_996del	ENSP00000420412.2:p.Ser332PhefsTer4
ENST00000489037.2:c.4229_4230del	ENSP00000420781.2:p.Ser1410PhefsTer4
ENST00000493919.6:c.857_858del	ENSP00000418819.2:p.Ser286PhefsTer4
ENST00000494123.6:c.4307_4308del	ENSP00000419103.2:p.Ser1436PhefsTer4
ENST00000497488.2:c.3419_3420del	ENSP00000418986.2:p.Ser1140PhefsTer4
ENST00000618469.2:c.4307_4308del	ENSP00000478114.2:p.Ser1436PhefsTer4
ENST00000634433.2:c.4184_4185del	ENSP00000489431.2:p.Ser1395PhefsTer4
ENST00000644379.2:c.4307_4308del	ENSP00000496570.2:p.Ser1436PhefsTer4
ENST00000644555.2:c.857_858del	ENSP00000494614.2:p.Ser286PhefsTer4
ENST00000652672.2:c.4166_4167del	ENSP00000498906.2:p.Ser1389PhefsTer4
ENST00000484087.6:c.872_873del	ENSP00000419481.2:p.Ser291PhefsTer4
ENST00000700182.1:c.917_918del	ENSP00000514849.1:p.Ser306PhefsTer4
ENST00000357654.9:c.4307_4308del MANE Select	ENSP00000350283.3:p.Ser1436PhefsTer4
ENST00000471181.7:c.4307_4308del	ENSP00000418960.2:p.Ser1436PhefsTer4
ENST00000644379.1:c.628_629del
ENST00000352993.7:c.881_882del	ENSP00000312236.5:p.Ser294PhefsTer4
ENST00000357654.7:c.4307_4308del	ENSP00000350283.3:p.Ser1436PhefsTer4
ENST00000461221.5:c.*4090_*4091del	ENSP00000418548.1:n.*4090_*4091del
ENST00000461574.1:c.601_602del
ENST00000468300.5:c.998_999del	ENSP00000417148.1:p.Ser333PhefsTer4
ENST00000471181.6:c.4307_4308del	ENSP00000418960.2:p.Ser1436PhefsTer4
ENST00000478531.5:c.995_996del	ENSP00000420412.1:p.Ser332PhefsTer4
ENST00000484087.5:c.620_621del	ENSP00000419481.1:p.Ser207PhefsTer4
ENST00000487825.5:c.623_624del	ENSP00000418212.1:p.Ser208PhefsTer4
ENST00000491747.6:c.998_999del	ENSP00000420705.2:p.Ser333PhefsTer4
ENST00000493795.5:c.4166_4167del	ENSP00000418775.1:p.Ser1389PhefsTer4
ENST00000493919.5:c.857_858del	ENSP00000418819.1:p.Ser286PhefsTer4
ENST00000586385.5:c.5-18503_5-18502del	ENSP00000465818.1:n.5-18503_5-18502del
ENST00000591534.5:c.-43-7933_-43-7932del	ENSP00000467329.1:n.-43-7933_-43-7932del
ENST00000591849.5:c.-98-32264_-98-32263del	ENSP00000465347.1:n.-98-32264_-98-32263del
ENST00000621897.1:n.201_202del
NM_007294.3:c.4307_4308del , LRG_292t1:c.4307_4308del	NP_009225.1:p.Ser1436PhefsTer4
NM_007297.3:c.4166_4167del	NP_009228.2:p.Ser1389PhefsTer4
NM_007298.3:c.998_999del	NP_009229.2:p.Ser333PhefsTer4
NM_007299.3:c.998_999del	NP_009230.2:p.Ser333PhefsTer4
NM_007300.3:c.4307_4308del	NP_009231.2:p.Ser1436PhefsTer4
NR_027676.1:n.4443_4444del
NM_007294.4:c.4307_4308del MANE Select	NP_009225.1:p.Ser1436PhefsTer4
NM_007297.4:c.4166_4167del	NP_009228.2:p.Ser1389PhefsTer4
NM_007299.4:c.998_999del	NP_009230.2:p.Ser333PhefsTer4
NM_007300.4:c.4307_4308del	NP_009231.2:p.Ser1436PhefsTer4
NR_027676.2:n.4484_4485del