Canonical Allele Identifier: CA002362

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54963
• ClinVar RCV Id: RCV000496447 ; RCV000661336
• dbSNP Id: rs397509093
• MyVariant Identifiers: chr17:g.41243850_41243853del (hg19) ; chr17:g.43091833_43091836del (hg38)
• PubMed: PMID:20033483

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091833_43091836del , CM000679.2:g.43091833_43091836del	GRCh38
NC_000017.10:g.41243850_41243853del , CM000679.1:g.41243850_41243853del	GRCh37
NC_000017.9:g.38497376_38497379del	NCBI36
NG_005905.2:g.126148_126151del , LRG_292:g.126148_126151del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3759_3762del
ENST00000461574.2:c.3695_3698del	ENSP00000417241.2:p.Gly1232GlufsTer2
ENST00000470026.6:c.3695_3698del	ENSP00000419274.2:p.Gly1232GlufsTer2
ENST00000473961.6:c.3569_3572del	ENSP00000420201.2:p.Gly1190GlufsTer2
ENST00000476777.6:c.3692_3695del	ENSP00000417554.2:p.Gly1231GlufsTer2
ENST00000477152.6:c.3617_3620del	ENSP00000419988.2:p.Gly1206GlufsTer2
ENST00000478531.6:c.785-804_785-801del	ENSP00000420412.2:n.785-804_785-801del
ENST00000489037.2:c.3617_3620del	ENSP00000420781.2:p.Gly1206GlufsTer2
ENST00000493919.6:c.647-804_647-801del	ENSP00000418819.2:n.647-804_647-801del
ENST00000494123.6:c.3695_3698del	ENSP00000419103.2:p.Gly1232GlufsTer2
ENST00000497488.2:c.2807_2810del	ENSP00000418986.2:p.Gly936GlufsTer2
ENST00000618469.2:c.3695_3698del	ENSP00000478114.2:p.Gly1232GlufsTer2
ENST00000634433.2:c.3572_3575del	ENSP00000489431.2:p.Gly1191GlufsTer2
ENST00000644379.2:c.3695_3698del	ENSP00000496570.2:p.Gly1232GlufsTer2
ENST00000644555.2:c.647-804_647-801del	ENSP00000494614.2:n.647-804_647-801del
ENST00000652672.2:c.3554_3557del	ENSP00000498906.2:p.Gly1185GlufsTer2
ENST00000484087.6:c.665-804_665-801del	ENSP00000419481.2:n.665-804_665-801del
ENST00000700182.1:c.707-804_707-801del	ENSP00000514849.1:n.707-804_707-801del
ENST00000357654.9:c.3695_3698del MANE Select	ENSP00000350283.3:p.Gly1232GlufsTer2
ENST00000471181.7:c.3695_3698del	ENSP00000418960.2:p.Gly1232GlufsTer2
ENST00000644379.1:c.16_19del
ENST00000352993.7:c.671-804_671-801del	ENSP00000312236.5:n.671-804_671-801del
ENST00000354071.7:c.3695_3698del	ENSP00000326002.7:p.Gly1232GlufsTer2
ENST00000357654.7:c.3695_3698del	ENSP00000350283.3:p.Gly1232GlufsTer2
ENST00000461221.5:c.*3478_*3481del	ENSP00000418548.1:n.*3478_*3481del
ENST00000468300.5:c.788-804_788-801del	ENSP00000417148.1:n.788-804_788-801del
ENST00000471181.6:c.3695_3698del	ENSP00000418960.2:p.Gly1232GlufsTer2
ENST00000478531.5:c.785-804_785-801del	ENSP00000420412.1:n.785-804_785-801del
ENST00000484087.5:c.410-804_410-801del	ENSP00000419481.1:n.410-804_410-801del
ENST00000487825.5:c.413-804_413-801del	ENSP00000418212.1:n.413-804_413-801del
ENST00000491747.6:c.788-804_788-801del	ENSP00000420705.2:n.788-804_788-801del
ENST00000493795.5:c.3554_3557del	ENSP00000418775.1:p.Gly1185GlufsTer2
ENST00000493919.5:c.647-804_647-801del	ENSP00000418819.1:n.647-804_647-801del
ENST00000586385.5:c.5-27885_5-27882del	ENSP00000465818.1:n.5-27885_5-27882del
ENST00000591534.5:c.-43-17315_-43-17312del	ENSP00000467329.1:n.-43-17315_-43-17312de...
ENST00000591849.5:c.-99+33435_-99+33438del	ENSP00000465347.1:n.-99+33435_-99+33438de...
NM_007294.3:c.3695_3698del , LRG_292t1:c.3695_3698del	NP_009225.1:p.Gly1232GlufsTer2
NM_007297.3:c.3554_3557del	NP_009228.2:p.Gly1185GlufsTer2
NM_007298.3:c.788-804_788-801del	NP_009229.2:n.788-804_788-801del
NM_007299.3:c.788-804_788-801del	NP_009230.2:n.788-804_788-801del
NM_007300.3:c.3695_3698del	NP_009231.2:p.Gly1232GlufsTer2
NR_027676.1:n.3831_3834del
NM_007294.4:c.3695_3698del MANE Select	NP_009225.1:p.Gly1232GlufsTer2
NM_007297.4:c.3554_3557del	NP_009228.2:p.Gly1185GlufsTer2
NM_007299.4:c.788-804_788-801del	NP_009230.2:n.788-804_788-801del
NM_007300.4:c.3695_3698del	NP_009231.2:p.Gly1232GlufsTer2
NR_027676.2:n.3872_3875del