Canonical Allele Identifier: CA002325

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54947
• ClinVar RCV Id: RCV000112141 ; RCV000775154
• dbSNP Id: rs80357589
• MyVariant Identifiers: chr17:g.41243918_41243919del (hg19) ; chr17:g.43091901_43091902del (hg38)
• PubMed: PMID:11180604

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091903_43091904del , CM000679.2:g.43091903_43091904del	GRCh38
NC_000017.10:g.41243920_41243921del , CM000679.1:g.41243920_41243921del	GRCh37
NC_000017.9:g.38497446_38497447del	NCBI36
NG_005905.2:g.126082_126083del , LRG_292:g.126082_126083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3693_3694del
ENST00000461574.2:c.3629_3630del	ENSP00000417241.2:p.Glu1210ValfsTer8
ENST00000470026.6:c.3629_3630del	ENSP00000419274.2:p.Glu1210ValfsTer8
ENST00000473961.6:c.3503_3504del	ENSP00000420201.2:p.Glu1168ValfsTer8
ENST00000476777.6:c.3626_3627del	ENSP00000417554.2:p.Glu1209ValfsTer8
ENST00000477152.6:c.3551_3552del	ENSP00000419988.2:p.Glu1184ValfsTer8
ENST00000478531.6:c.785-870_785-869del	ENSP00000420412.2:n.785-870_785-869del
ENST00000489037.2:c.3551_3552del	ENSP00000420781.2:p.Glu1184ValfsTer8
ENST00000493919.6:c.647-870_647-869del	ENSP00000418819.2:n.647-870_647-869del
ENST00000494123.6:c.3629_3630del	ENSP00000419103.2:p.Glu1210ValfsTer8
ENST00000497488.2:c.2741_2742del	ENSP00000418986.2:p.Glu914ValfsTer8
ENST00000618469.2:c.3629_3630del	ENSP00000478114.2:p.Glu1210ValfsTer8
ENST00000634433.2:c.3506_3507del	ENSP00000489431.2:p.Glu1169ValfsTer8
ENST00000644379.2:c.3629_3630del	ENSP00000496570.2:p.Glu1210ValfsTer8
ENST00000644555.2:c.647-870_647-869del	ENSP00000494614.2:n.647-870_647-869del
ENST00000652672.2:c.3488_3489del	ENSP00000498906.2:p.Glu1163ValfsTer8
ENST00000484087.6:c.665-870_665-869del	ENSP00000419481.2:n.665-870_665-869del
ENST00000700182.1:c.707-870_707-869del	ENSP00000514849.1:n.707-870_707-869del
ENST00000357654.9:c.3629_3630del MANE Select	ENSP00000350283.3:p.Glu1210ValfsTer8
ENST00000471181.7:c.3629_3630del	ENSP00000418960.2:p.Glu1210ValfsTer8
ENST00000352993.7:c.671-870_671-869del	ENSP00000312236.5:n.671-870_671-869del
ENST00000354071.7:c.3629_3630del	ENSP00000326002.7:p.Glu1210ValfsTer8
ENST00000357654.7:c.3629_3630del	ENSP00000350283.3:p.Glu1210ValfsTer8
ENST00000461221.5:c.*3412_*3413del	ENSP00000418548.1:n.*3412_*3413del
ENST00000468300.5:c.788-870_788-869del	ENSP00000417148.1:n.788-870_788-869del
ENST00000471181.6:c.3629_3630del	ENSP00000418960.2:p.Glu1210ValfsTer8
ENST00000478531.5:c.785-870_785-869del	ENSP00000420412.1:n.785-870_785-869del
ENST00000484087.5:c.410-870_410-869del	ENSP00000419481.1:n.410-870_410-869del
ENST00000487825.5:c.413-870_413-869del	ENSP00000418212.1:n.413-870_413-869del
ENST00000491747.6:c.788-870_788-869del	ENSP00000420705.2:n.788-870_788-869del
ENST00000493795.5:c.3488_3489del	ENSP00000418775.1:p.Glu1163ValfsTer8
ENST00000493919.5:c.647-870_647-869del	ENSP00000418819.1:n.647-870_647-869del
ENST00000586385.5:c.5-27951_5-27950del	ENSP00000465818.1:n.5-27951_5-27950del
ENST00000591534.5:c.-43-17381_-43-17380del	ENSP00000467329.1:n.-43-17381_-43-17380del
ENST00000591849.5:c.-99+33369_-99+33370del	ENSP00000465347.1:n.-99+33369_-99+33370del
NM_007294.3:c.3629_3630del , LRG_292t1:c.3629_3630del	NP_009225.1:p.Glu1210ValfsTer8
NM_007297.3:c.3488_3489del	NP_009228.2:p.Glu1163ValfsTer8
NM_007298.3:c.788-870_788-869del	NP_009229.2:n.788-870_788-869del
NM_007299.3:c.788-870_788-869del	NP_009230.2:n.788-870_788-869del
NM_007300.3:c.3629_3630del	NP_009231.2:p.Glu1210ValfsTer8
NR_027676.1:n.3765_3766del
NM_007294.4:c.3629_3630del MANE Select	NP_009225.1:p.Glu1210ValfsTer8
NM_007297.4:c.3488_3489del	NP_009228.2:p.Glu1163ValfsTer8
NM_007299.4:c.788-870_788-869del	NP_009230.2:n.788-870_788-869del
NM_007300.4:c.3629_3630del	NP_009231.2:p.Glu1210ValfsTer8
NR_027676.2:n.3806_3807del