Canonical Allele Identifier: CA003827

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55676
• ClinVar RCV Id: RCV000049106 ; RCV000111682 ; RCV000131391 ; RCV000486060
• dbSNP Id: rs80357696 ; rs80359877
• MyVariant Identifiers: chr17:g.41276034_41276044del (hg19) ; chr17:g.43124017_43124027del (hg38)
• PubMed: PMID:7545954 ; PMID:7837387 ; PMID:8651293 ; PMID:10498392 ; PMID:11896095 ; PMID:25682074 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43124017_43124027del , CM000679.2:g.43124017_43124027del	GRCh38
NC_000017.10:g.41276034_41276044del , CM000679.1:g.41276034_41276044del	GRCh37
NC_000017.9:g.38529560_38529570del	NCBI36
NG_005905.2:g.93956_93966del , LRG_292:g.93956_93966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352993.7:c.69_79del	ENSP00000312236.5:p.Cys24SerfsTer13
ENST00000354071.7:c.69_79del	ENSP00000326002.7:p.Cys24SerfsTer13
ENST00000357654.7:c.69_79del	ENSP00000350283.3:p.Cys24SerfsTer13
ENST00000461221.5:c.69_79del	ENSP00000418548.1:p.Cys24SerfsTer13
ENST00000461798.5:c.69_79del	ENSP00000417988.1:p.Cys24SerfsTer13
ENST00000468300.5:c.69_79del	ENSP00000417148.1:p.Cys24SerfsTer13
ENST00000470026.5:c.69_79del	ENSP00000419274.1:p.Cys24SerfsTer13
ENST00000471181.6:c.69_79del	ENSP00000418960.2:p.Cys24SerfsTer13
ENST00000476777.5:c.69_79del	ENSP00000417554.1:p.Cys24SerfsTer13
ENST00000477152.5:c.69_79del	ENSP00000419988.1:p.Cys24SerfsTer13
ENST00000478531.5:c.69_79del	ENSP00000420412.1:p.Cys24SerfsTer13
ENST00000489037.1:c.69_79del	ENSP00000420781.1:p.Cys24SerfsTer13
ENST00000491747.6:c.69_79del	ENSP00000420705.2:p.Cys24SerfsTer13
ENST00000492859.5:c.69_79del	ENSP00000420253.1:p.Cys24SerfsTer13
ENST00000493795.5:c.-19_-9del	ENSP00000418775.1:p.=
ENST00000493919.5:c.-19_-9del	ENSP00000418819.1:p.=
ENST00000494123.5:c.69_79del	ENSP00000419103.1:p.Cys24SerfsTer13
ENST00000497488.1:c.-219+1243_-219+1253del	ENSP00000418986.1:p.=
ENST00000586385.5:c.4+1154_4+1164del	ENSP00000465818.1:p.=
ENST00000591534.5:c.-44+1243_-44+1253del	ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+1243_-99+1253del	ENSP00000465347.1:p.=
ENST00000634433.1:c.69_79del	ENSP00000489431.1:p.Cys24SerfsTer13
NM_007294.3:c.69_79del , LRG_292t1:c.69_79del	NP_009225.1:p.Cys24SerfsTer13
NM_007297.3:c.-19_-9del	NP_009228.2:p.=
NM_007298.3:c.69_79del	NP_009229.2:p.Cys24SerfsTer13
NM_007299.3:c.69_79del	NP_009230.2:p.Cys24SerfsTer13
NM_007300.3:c.69_79del	NP_009231.2:p.Cys24SerfsTer13
NM_007294.4:c.69_79del MANE Select	NP_009225.1:p.Cys24SerfsTer13
NM_007297.4:c.-19_-9del	NP_009228.2:p.=
NM_007299.4:c.69_79del	NP_009230.2:p.Cys24SerfsTer13
NM_007300.4:c.69_79del	NP_009231.2:p.Cys24SerfsTer13