Canonical Allele Identifier: CA002581

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55082
• ClinVar RCV Id: RCV002250541 ; RCV002477172
• dbSNP Id: rs80357727
• gnomAD v3: 17-43091488-CCT-C
• gnomAD v4: 17-43091488-CCT-C
• MyVariant Identifiers: chr17:g.41243506_41243507del (hg19) ; chr17:g.43091489_43091490del (hg38)
• PubMed: PMID:9649133 ; PMID:12204006 ; PMID:16267036 ; PMID:17922257 ; PMID:19016756 ; PMID:20960228 ; PMID:22006311 ; PMID:22798144 ; PMID:22864640 ; PMID:25330149 ; PMID:25418591 ; PMID:26295337 ; PMID:26843898 ; PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091491_43091492del , CM000679.2:g.43091491_43091492del	GRCh38
NC_000017.10:g.41243508_41243509del , CM000679.1:g.41243508_41243509del	GRCh37
NC_000017.9:g.38497034_38497035del	NCBI36
NG_005905.2:g.126494_126495del , LRG_292:g.126494_126495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4105_4106del
ENST00000461574.2:c.4041_4042del	ENSP00000417241.2:p.Gly1348AsnfsTer7
ENST00000470026.6:c.4041_4042del	ENSP00000419274.2:p.Gly1348AsnfsTer7
ENST00000473961.6:c.3915_3916del	ENSP00000420201.2:p.Gly1306AsnfsTer7
ENST00000476777.6:c.4038_4039del	ENSP00000417554.2:p.Gly1347AsnfsTer7
ENST00000477152.6:c.3963_3964del	ENSP00000419988.2:p.Gly1322AsnfsTer7
ENST00000478531.6:c.785-458_785-457del	ENSP00000420412.2:n.785-458_785-457del
ENST00000489037.2:c.3963_3964del	ENSP00000420781.2:p.Gly1322AsnfsTer7
ENST00000493919.6:c.647-458_647-457del	ENSP00000418819.2:n.647-458_647-457del
ENST00000494123.6:c.4041_4042del	ENSP00000419103.2:p.Gly1348AsnfsTer7
ENST00000497488.2:c.3153_3154del	ENSP00000418986.2:p.Gly1052AsnfsTer7
ENST00000618469.2:c.4041_4042del	ENSP00000478114.2:p.Gly1348AsnfsTer7
ENST00000634433.2:c.3918_3919del	ENSP00000489431.2:p.Gly1307AsnfsTer7
ENST00000644379.2:c.4041_4042del	ENSP00000496570.2:p.Gly1348AsnfsTer7
ENST00000644555.2:c.647-458_647-457del	ENSP00000494614.2:n.647-458_647-457del
ENST00000652672.2:c.3900_3901del	ENSP00000498906.2:p.Gly1301AsnfsTer7
ENST00000484087.6:c.665-458_665-457del	ENSP00000419481.2:n.665-458_665-457del
ENST00000700182.1:c.707-458_707-457del	ENSP00000514849.1:n.707-458_707-457del
ENST00000357654.9:c.4041_4042del MANE Select	ENSP00000350283.3:p.Gly1348AsnfsTer7
ENST00000471181.7:c.4041_4042del	ENSP00000418960.2:p.Gly1348AsnfsTer7
ENST00000644379.1:c.362_363del
ENST00000352993.7:c.671-458_671-457del	ENSP00000312236.5:n.671-458_671-457del
ENST00000354071.7:c.4041_4042del	ENSP00000326002.7:p.Gly1348AsnfsTer7
ENST00000357654.7:c.4041_4042del	ENSP00000350283.3:p.Gly1348AsnfsTer7
ENST00000461221.5:c.*3824_*3825del	ENSP00000418548.1:n.*3824_*3825del
ENST00000461574.1:c.335_336del
ENST00000468300.5:c.788-458_788-457del	ENSP00000417148.1:n.788-458_788-457del
ENST00000471181.6:c.4041_4042del	ENSP00000418960.2:p.Gly1348AsnfsTer7
ENST00000478531.5:c.785-458_785-457del	ENSP00000420412.1:n.785-458_785-457del
ENST00000484087.5:c.410-458_410-457del	ENSP00000419481.1:n.410-458_410-457del
ENST00000487825.5:c.413-458_413-457del	ENSP00000418212.1:n.413-458_413-457del
ENST00000491747.6:c.788-458_788-457del	ENSP00000420705.2:n.788-458_788-457del
ENST00000493795.5:c.3900_3901del	ENSP00000418775.1:p.Gly1301AsnfsTer7
ENST00000493919.5:c.647-458_647-457del	ENSP00000418819.1:n.647-458_647-457del
ENST00000586385.5:c.5-27539_5-27538del	ENSP00000465818.1:n.5-27539_5-27538del
ENST00000591534.5:c.-43-16969_-43-16968del	ENSP00000467329.1:n.-43-16969_-43-16968de...
ENST00000591849.5:c.-99+33781_-99+33782del	ENSP00000465347.1:n.-99+33781_-99+33782de...
NM_007294.3:c.4041_4042del , LRG_292t1:c.4041_4042del	NP_009225.1:p.Gly1348AsnfsTer7
NM_007297.3:c.3900_3901del	NP_009228.2:p.Gly1301AsnfsTer7
NM_007298.3:c.788-458_788-457del	NP_009229.2:n.788-458_788-457del
NM_007299.3:c.788-458_788-457del	NP_009230.2:n.788-458_788-457del
NM_007300.3:c.4041_4042del	NP_009231.2:p.Gly1348AsnfsTer7
NR_027676.1:n.4177_4178del
NM_007294.4:c.4041_4042del MANE Select	NP_009225.1:p.Gly1348AsnfsTer7
NM_007297.4:c.3900_3901del	NP_009228.2:p.Gly1301AsnfsTer7
NM_007299.4:c.788-458_788-457del	NP_009230.2:n.788-458_788-457del
NM_007300.4:c.4041_4042del	NP_009231.2:p.Gly1348AsnfsTer7
NR_027676.2:n.4218_4219del