Canonical Allele Identifier: CA658761200

Gene: BRCA1

Linked Data

• PubMed: PMID:9808526

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070934_43070952del , CM000679.2:g.43070934_43070952del	GRCh38
NC_000017.10:g.41222951_41222969del , CM000679.1:g.41222951_41222969del	GRCh37
NC_000017.9:g.38476477_38476495del	NCBI36
NG_005905.2:g.147033_147051del , LRG_292:g.147033_147051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4960_4978del	ENSP00000417241.2:p.Ser1654AsnfsTer16
ENST00000470026.6:c.4963_4981del	ENSP00000419274.2:p.Ser1655AsnfsTer16
ENST00000473961.6:c.4837_4855del	ENSP00000420201.2:p.Ser1613AsnfsTer16
ENST00000476777.6:c.4957_4975del	ENSP00000417554.2:p.Ser1653AsnfsTer16
ENST00000477152.6:c.4885_4903del	ENSP00000419988.2:p.Ser1629AsnfsTer16
ENST00000478531.6:c.1651_1669del	ENSP00000420412.2:p.Ser551AsnfsTer16
ENST00000489037.2:c.4885_4903del	ENSP00000420781.2:p.Ser1629AsnfsTer16
ENST00000493919.6:c.1513_1531del	ENSP00000418819.2:p.Ser505AsnfsTer16
ENST00000494123.6:c.4963_4981del	ENSP00000419103.2:p.Ser1655AsnfsTer16
ENST00000497488.2:c.4075_4093del	ENSP00000418986.2:p.Ser1359AsnfsTer16
ENST00000618469.2:c.4963_4981del	ENSP00000478114.2:p.Ser1655AsnfsTer16
ENST00000634433.2:c.4840_4858del	ENSP00000489431.2:p.Ser1614AsnfsTer16
ENST00000644379.2:c.5029_5047del	ENSP00000496570.2:p.Ser1677AsnfsTer16
ENST00000644555.2:c.1513_1531del	ENSP00000494614.2:p.Ser505AsnfsTer16
ENST00000652672.2:c.4822_4840del	ENSP00000498906.2:p.Ser1608AsnfsTer16
ENST00000484087.6:c.1525_1543del	ENSP00000419481.2:p.Ser509AsnfsTer16
ENST00000700182.1:c.1570_1588del	ENSP00000514849.1:p.Ser524AsnfsTer3
ENST00000357654.9:c.4963_4981del MANE Select	ENSP00000350283.3:p.Ser1655AsnfsTer16
ENST00000471181.7:c.5026_5044del	ENSP00000418960.2:p.Ser1676AsnfsTer16
ENST00000644379.1:c.1350_1368del
ENST00000352993.7:c.1537_1555del	ENSP00000312236.5:p.Ser513AsnfsTer16
ENST00000357654.7:c.4963_4981del	ENSP00000350283.3:p.Ser1655AsnfsTer16
ENST00000461221.5:c.*4746_*4764del	ENSP00000418548.1:n.*4746_*4764del
ENST00000468300.5:c.1651_1669del	ENSP00000417148.1:p.Ser551AsnfsTer16
ENST00000471181.6:c.5026_5044del	ENSP00000418960.2:p.Ser1676AsnfsTer16
ENST00000472490.1:n.116_134del
ENST00000478531.5:c.1651_1669del	ENSP00000420412.1:p.Ser551AsnfsTer16
ENST00000484087.5:c.1276_1294del	ENSP00000419481.1:p.Ser426AsnfsTer16
ENST00000491747.6:c.1651_1669del	ENSP00000420705.2:p.Ser551AsnfsTer16
ENST00000493795.5:c.4822_4840del	ENSP00000418775.1:p.Ser1608AsnfsTer16
ENST00000493919.5:c.1513_1531del	ENSP00000418819.1:p.Ser505AsnfsTer16
ENST00000586385.5:c.5-7000_5-6982del	ENSP00000465818.1:n.5-7000_5-6982del
ENST00000591534.5:c.436_454del	ENSP00000467329.1:p.Ser146AsnfsTer16
ENST00000591849.5:c.-98-20761_-98-20743del	ENSP00000465347.1:n.-98-20761_-98-20743del
NM_007294.3:c.4963_4981del , LRG_292t1:c.4963_4981del	NP_009225.1:p.Ser1655AsnfsTer16
NM_007297.3:c.4822_4840del	NP_009228.2:p.Ser1608AsnfsTer16
NM_007298.3:c.1651_1669del	NP_009229.2:p.Ser551AsnfsTer16
NM_007299.3:c.1651_1669del	NP_009230.2:p.Ser551AsnfsTer16
NM_007300.3:c.5026_5044del	NP_009231.2:p.Ser1676AsnfsTer16
NR_027676.1:n.5099_5117del
NM_007294.4:c.4963_4981del MANE Select	NP_009225.1:p.Ser1655AsnfsTer16
NM_007297.4:c.4822_4840del	NP_009228.2:p.Ser1608AsnfsTer16
NM_007299.4:c.1651_1669del	NP_009230.2:p.Ser551AsnfsTer16
NM_007300.4:c.5026_5044del	NP_009231.2:p.Ser1676AsnfsTer16
NR_027676.2:n.5140_5158del