Canonical Allele Identifier: CA983873300
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067798_43067800del , CM000679.2:g.43067798_43067800del GRCh38
NC_000017.10:g.41219815_41219817del , CM000679.1:g.41219815_41219817del GRCh37
NC_000017.9:g.38473341_38473343del NCBI36
NG_005905.2:g.150185_150187del , LRG_292:g.150185_150187del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-104_4984-102del ENSP00000417241.2:n.4984-104_4984-102del
ENST00000470026.6:c.4987-104_4987-102del ENSP00000419274.2:n.4987-104_4987-102del
ENST00000473961.6:c.4861-104_4861-102del ENSP00000420201.2:n.4861-104_4861-102del
ENST00000476777.6:c.4981-104_4981-102del ENSP00000417554.2:n.4981-104_4981-102del
ENST00000477152.6:c.4909-104_4909-102del ENSP00000419988.2:n.4909-104_4909-102del
ENST00000478531.6:c.1675-104_1675-102del ENSP00000420412.2:n.1675-104_1675-102del
ENST00000489037.2:c.4909-104_4909-102del ENSP00000420781.2:n.4909-104_4909-102del
ENST00000493919.6:c.1537-104_1537-102del ENSP00000418819.2:n.1537-104_1537-102del
ENST00000494123.6:c.4987-104_4987-102del ENSP00000419103.2:n.4987-104_4987-102del
ENST00000497488.2:c.4099-104_4099-102del ENSP00000418986.2:n.4099-104_4099-102del
ENST00000618469.2:c.4987-104_4987-102del ENSP00000478114.2:n.4987-104_4987-102del
ENST00000634433.2:c.4864-104_4864-102del ENSP00000489431.2:n.4864-104_4864-102del
ENST00000644379.2:c.5053-104_5053-102del ENSP00000496570.2:n.5053-104_5053-102del
ENST00000644555.2:c.1537-104_1537-102del ENSP00000494614.2:n.1537-104_1537-102del
ENST00000652672.2:c.4846-104_4846-102del ENSP00000498906.2:n.4846-104_4846-102del
ENST00000484087.6:c.1549-104_1549-102del ENSP00000419481.2:n.1549-104_1549-102del
ENST00000357654.9:c.4987-104_4987-102del MANE Select ENSP00000350283.3:n.4987-104_4987-102del
ENST00000471181.7:c.5050-104_5050-102del ENSP00000418960.2:n.5050-104_5050-102del
ENST00000644379.1:c.1374-104_1374-102del
ENST00000352993.7:c.1561-104_1561-102del ENSP00000312236.5:n.1561-104_1561-102del
ENST00000357654.7:c.4987-104_4987-102del ENSP00000350283.3:n.4987-104_4987-102del
ENST00000461221.5:c.*4770-104_*4770-102del ENSP00000418548.1:n.*4770-104_*4770-102del
ENST00000468300.5:c.1675-104_1675-102del ENSP00000417148.1:n.1675-104_1675-102del
ENST00000471181.6:c.5050-104_5050-102del ENSP00000418960.2:n.5050-104_5050-102del
ENST00000472490.1:n.140-104_140-102del
ENST00000478531.5:c.1675-104_1675-102del ENSP00000420412.1:n.1675-104_1675-102del
ENST00000484087.5:c.1300-104_1300-102del ENSP00000419481.1:n.1300-104_1300-102del
ENST00000491747.6:c.1675-104_1675-102del ENSP00000420705.2:n.1675-104_1675-102del
ENST00000493795.5:c.4846-104_4846-102del ENSP00000418775.1:n.4846-104_4846-102del
ENST00000493919.5:c.1537-104_1537-102del ENSP00000418819.1:n.1537-104_1537-102del
ENST00000586385.5:c.5-3848_5-3846del ENSP00000465818.1:n.5-3848_5-3846del
ENST00000591534.5:c.460-104_460-102del ENSP00000467329.1:n.460-104_460-102del
ENST00000591849.5:c.-98-17609_-98-17607del ENSP00000465347.1:n.-98-17609_-98-17607del
NM_007294.3:c.4987-104_4987-102del , LRG_292t1:c.4987-104_4987-102del NP_009225.1:n.4987-104_4987-102del
NM_007297.3:c.4846-104_4846-102del NP_009228.2:n.4846-104_4846-102del
NM_007298.3:c.1675-104_1675-102del NP_009229.2:n.1675-104_1675-102del
NM_007299.3:c.1675-104_1675-102del NP_009230.2:n.1675-104_1675-102del
NM_007300.3:c.5050-104_5050-102del NP_009231.2:n.5050-104_5050-102del
NR_027676.1:n.5123-104_5123-102del
NM_007294.4:c.4987-104_4987-102del MANE Select NP_009225.1:n.4987-104_4987-102del
NM_007297.4:c.4846-104_4846-102del NP_009228.2:n.4846-104_4846-102del
NM_007299.4:c.1675-104_1675-102del NP_009230.2:n.1675-104_1675-102del
NM_007300.4:c.5050-104_5050-102del NP_009231.2:n.5050-104_5050-102del
NR_027676.2:n.5164-104_5164-102del