Canonical Allele Identifier: CA658656627

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462601
• ClinVar RCV Id: RCV000534744 ; RCV001185978
• dbSNP Id: rs1555588392
• MyVariant Identifiers: chr17:g.41244444_41244445del (hg19) ; chr17:g.43092427_43092428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092428_43092429del , CM000679.2:g.43092428_43092429del	GRCh38
NC_000017.10:g.41244445_41244446del , CM000679.1:g.41244445_41244446del	GRCh37
NC_000017.9:g.38497971_38497972del	NCBI36
NG_005905.2:g.125556_125557del , LRG_292:g.125556_125557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3167_3168del
ENST00000461574.2:c.3103_3104del	ENSP00000417241.2:p.Val1035PhefsTer2
ENST00000470026.6:c.3103_3104del	ENSP00000419274.2:p.Val1035PhefsTer2
ENST00000473961.6:c.2977_2978del	ENSP00000420201.2:p.Val993PhefsTer2
ENST00000476777.6:c.3100_3101del	ENSP00000417554.2:p.Val1034PhefsTer2
ENST00000477152.6:c.3025_3026del	ENSP00000419988.2:p.Val1009PhefsTer2
ENST00000478531.6:c.785-1396_785-1395del	ENSP00000420412.2:n.785-1396_785-1395del
ENST00000489037.2:c.3025_3026del	ENSP00000420781.2:p.Val1009PhefsTer2
ENST00000493919.6:c.647-1396_647-1395del	ENSP00000418819.2:n.647-1396_647-1395del
ENST00000494123.6:c.3103_3104del	ENSP00000419103.2:p.Val1035PhefsTer2
ENST00000497488.2:c.2215_2216del	ENSP00000418986.2:p.Val739PhefsTer2
ENST00000618469.2:c.3103_3104del	ENSP00000478114.2:p.Val1035PhefsTer2
ENST00000634433.2:c.2980_2981del	ENSP00000489431.2:p.Val994PhefsTer2
ENST00000644379.2:c.3103_3104del	ENSP00000496570.2:p.Val1035PhefsTer2
ENST00000644555.2:c.647-1396_647-1395del	ENSP00000494614.2:n.647-1396_647-1395del
ENST00000652672.2:c.2962_2963del	ENSP00000498906.2:p.Val988PhefsTer2
ENST00000484087.6:c.665-1396_665-1395del	ENSP00000419481.2:n.665-1396_665-1395del
ENST00000700182.1:c.707-1396_707-1395del	ENSP00000514849.1:n.707-1396_707-1395del
ENST00000357654.9:c.3103_3104del MANE Select	ENSP00000350283.3:p.Val1035PhefsTer2
ENST00000471181.7:c.3103_3104del	ENSP00000418960.2:p.Val1035PhefsTer2
ENST00000352993.7:c.671-1396_671-1395del	ENSP00000312236.5:n.671-1396_671-1395del
ENST00000354071.7:c.3103_3104del	ENSP00000326002.7:p.Val1035PhefsTer2
ENST00000357654.7:c.3103_3104del	ENSP00000350283.3:p.Val1035PhefsTer2
ENST00000461221.5:c.*2886_*2887del	ENSP00000418548.1:n.*2886_*2887del
ENST00000468300.5:c.788-1396_788-1395del	ENSP00000417148.1:n.788-1396_788-1395del
ENST00000471181.6:c.3103_3104del	ENSP00000418960.2:p.Val1035PhefsTer2
ENST00000478531.5:c.785-1396_785-1395del	ENSP00000420412.1:n.785-1396_785-1395del
ENST00000484087.5:c.410-1396_410-1395del	ENSP00000419481.1:n.410-1396_410-1395del
ENST00000487825.5:c.413-1396_413-1395del	ENSP00000418212.1:n.413-1396_413-1395del
ENST00000491747.6:c.788-1396_788-1395del	ENSP00000420705.2:n.788-1396_788-1395del
ENST00000493795.5:c.2962_2963del	ENSP00000418775.1:p.Val988PhefsTer2
ENST00000493919.5:c.647-1396_647-1395del	ENSP00000418819.1:n.647-1396_647-1395del
ENST00000586385.5:c.5-28477_5-28476del	ENSP00000465818.1:n.5-28477_5-28476del
ENST00000591534.5:c.-43-17907_-43-17906del	ENSP00000467329.1:n.-43-17907_-43-17906del
ENST00000591849.5:c.-99+32843_-99+32844del	ENSP00000465347.1:n.-99+32843_-99+32844del
NM_007294.3:c.3103_3104del , LRG_292t1:c.3103_3104del	NP_009225.1:p.Val1035PhefsTer2
NM_007297.3:c.2962_2963del	NP_009228.2:p.Val988PhefsTer2
NM_007298.3:c.788-1396_788-1395del	NP_009229.2:n.788-1396_788-1395del
NM_007299.3:c.788-1396_788-1395del	NP_009230.2:n.788-1396_788-1395del
NM_007300.3:c.3103_3104del	NP_009231.2:p.Val1035PhefsTer2
NR_027676.1:n.3239_3240del
NM_007294.4:c.3103_3104del MANE Select	NP_009225.1:p.Val1035PhefsTer2
NM_007297.4:c.2962_2963del	NP_009228.2:p.Val988PhefsTer2
NM_007299.4:c.788-1396_788-1395del	NP_009230.2:n.788-1396_788-1395del
NM_007300.4:c.3103_3104del	NP_009231.2:p.Val1035PhefsTer2
NR_027676.2:n.3280_3281del