Canonical Allele Identifier: CA10589737

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266387
• ClinVar RCV Id: RCV003530031
• dbSNP Id: rs886040146
• gnomAD v4: 17-43091941-TGTGTATGG-T
• MyVariant Identifiers: chr17:g.41243959_41243966del (hg19) ; chr17:g.43091942_43091949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091945_43091952del , CM000679.2:g.43091945_43091952del	GRCh38
NC_000017.10:g.41243962_41243969del , CM000679.1:g.41243962_41243969del	GRCh37
NC_000017.9:g.38497488_38497495del	NCBI36
NG_005905.2:g.126035_126042del , LRG_292:g.126035_126042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3646_3653del
ENST00000461574.2:c.3582_3589del	ENSP00000417241.2:p.His1195PhefsTer21
ENST00000470026.6:c.3582_3589del	ENSP00000419274.2:p.His1195PhefsTer21
ENST00000473961.6:c.3456_3463del	ENSP00000420201.2:p.His1153PhefsTer21
ENST00000476777.6:c.3579_3586del	ENSP00000417554.2:p.His1194PhefsTer21
ENST00000477152.6:c.3504_3511del	ENSP00000419988.2:p.His1169PhefsTer21
ENST00000478531.6:c.785-917_785-910del	ENSP00000420412.2:n.785-917_785-910del
ENST00000489037.2:c.3504_3511del	ENSP00000420781.2:p.His1169PhefsTer21
ENST00000493919.6:c.647-917_647-910del	ENSP00000418819.2:n.647-917_647-910del
ENST00000494123.6:c.3582_3589del	ENSP00000419103.2:p.His1195PhefsTer21
ENST00000497488.2:c.2694_2701del	ENSP00000418986.2:p.His899PhefsTer21
ENST00000618469.2:c.3582_3589del	ENSP00000478114.2:p.His1195PhefsTer21
ENST00000634433.2:c.3459_3466del	ENSP00000489431.2:p.His1154PhefsTer21
ENST00000644379.2:c.3582_3589del	ENSP00000496570.2:p.His1195PhefsTer21
ENST00000644555.2:c.647-917_647-910del	ENSP00000494614.2:n.647-917_647-910del
ENST00000652672.2:c.3441_3448del	ENSP00000498906.2:p.His1148PhefsTer21
ENST00000484087.6:c.665-917_665-910del	ENSP00000419481.2:n.665-917_665-910del
ENST00000700182.1:c.707-917_707-910del	ENSP00000514849.1:n.707-917_707-910del
ENST00000357654.9:c.3582_3589del MANE Select	ENSP00000350283.3:p.His1195PhefsTer21
ENST00000471181.7:c.3582_3589del	ENSP00000418960.2:p.His1195PhefsTer21
ENST00000352993.7:c.671-917_671-910del	ENSP00000312236.5:n.671-917_671-910del
ENST00000354071.7:c.3582_3589del	ENSP00000326002.7:p.His1195PhefsTer21
ENST00000357654.7:c.3582_3589del	ENSP00000350283.3:p.His1195PhefsTer21
ENST00000461221.5:c.*3365_*3372del	ENSP00000418548.1:n.*3365_*3372del
ENST00000468300.5:c.788-917_788-910del	ENSP00000417148.1:n.788-917_788-910del
ENST00000471181.6:c.3582_3589del	ENSP00000418960.2:p.His1195PhefsTer21
ENST00000478531.5:c.785-917_785-910del	ENSP00000420412.1:n.785-917_785-910del
ENST00000484087.5:c.410-917_410-910del	ENSP00000419481.1:n.410-917_410-910del
ENST00000487825.5:c.413-917_413-910del	ENSP00000418212.1:n.413-917_413-910del
ENST00000491747.6:c.788-917_788-910del	ENSP00000420705.2:n.788-917_788-910del
ENST00000493795.5:c.3441_3448del	ENSP00000418775.1:p.His1148PhefsTer21
ENST00000493919.5:c.647-917_647-910del	ENSP00000418819.1:n.647-917_647-910del
ENST00000586385.5:c.5-27998_5-27991del	ENSP00000465818.1:n.5-27998_5-27991del
ENST00000591534.5:c.-43-17428_-43-17421del	ENSP00000467329.1:n.-43-17428_-43-17421del
ENST00000591849.5:c.-99+33322_-99+33329del	ENSP00000465347.1:n.-99+33322_-99+33329del
NM_007294.3:c.3582_3589del , LRG_292t1:c.3582_3589del	NP_009225.1:p.His1195PhefsTer21
NM_007297.3:c.3441_3448del	NP_009228.2:p.His1148PhefsTer21
NM_007298.3:c.788-917_788-910del	NP_009229.2:n.788-917_788-910del
NM_007299.3:c.788-917_788-910del	NP_009230.2:n.788-917_788-910del
NM_007300.3:c.3582_3589del	NP_009231.2:p.His1195PhefsTer21
NR_027676.1:n.3718_3725del
NM_007294.4:c.3582_3589del MANE Select	NP_009225.1:p.His1195PhefsTer21
NM_007297.4:c.3441_3448del	NP_009228.2:p.His1148PhefsTer21
NM_007299.4:c.788-917_788-910del	NP_009230.2:n.788-917_788-910del
NM_007300.4:c.3582_3589del	NP_009231.2:p.His1195PhefsTer21
NR_027676.2:n.3759_3766del