Canonical Allele Identifier: CA658653693

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 441386
• ClinVar RCV Id: RCV000509932 ; RCV000660956
• dbSNP Id: rs1555587365
• MyVariant Identifiers: chr17:g.41243911del (hg19) ; chr17:g.43091894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091894del , CM000679.2:g.43091894del	GRCh38
NC_000017.10:g.41243911del , CM000679.1:g.41243911del	GRCh37
NC_000017.9:g.38497437del	NCBI36
NG_005905.2:g.126090del , LRG_292:g.126090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3701del
ENST00000461574.2:c.3637del	ENSP00000417241.2:p.Glu1213LysfsTer22
ENST00000470026.6:c.3637del	ENSP00000419274.2:p.Glu1213LysfsTer22
ENST00000473961.6:c.3511del	ENSP00000420201.2:p.Glu1171LysfsTer22
ENST00000476777.6:c.3634del	ENSP00000417554.2:p.Glu1212LysfsTer22
ENST00000477152.6:c.3559del	ENSP00000419988.2:p.Glu1187LysfsTer22
ENST00000478531.6:c.785-862del	ENSP00000420412.2:n.785-862del
ENST00000489037.2:c.3559del	ENSP00000420781.2:p.Glu1187LysfsTer22
ENST00000493919.6:c.647-862del	ENSP00000418819.2:n.647-862del
ENST00000494123.6:c.3637del	ENSP00000419103.2:p.Glu1213LysfsTer22
ENST00000497488.2:c.2749del	ENSP00000418986.2:p.Glu917LysfsTer22
ENST00000618469.2:c.3637del	ENSP00000478114.2:p.Glu1213LysfsTer22
ENST00000634433.2:c.3514del	ENSP00000489431.2:p.Glu1172LysfsTer22
ENST00000644379.2:c.3637del	ENSP00000496570.2:p.Glu1213LysfsTer22
ENST00000644555.2:c.647-862del	ENSP00000494614.2:n.647-862del
ENST00000652672.2:c.3496del	ENSP00000498906.2:p.Glu1166LysfsTer22
ENST00000484087.6:c.665-862del	ENSP00000419481.2:n.665-862del
ENST00000700182.1:c.707-862del	ENSP00000514849.1:n.707-862del
ENST00000357654.9:c.3637del MANE Select	ENSP00000350283.3:p.Glu1213LysfsTer22
ENST00000471181.7:c.3637del	ENSP00000418960.2:p.Glu1213LysfsTer22
ENST00000352993.7:c.671-862del	ENSP00000312236.5:n.671-862del
ENST00000354071.7:c.3637del	ENSP00000326002.7:p.Glu1213LysfsTer22
ENST00000357654.7:c.3637del	ENSP00000350283.3:p.Glu1213LysfsTer22
ENST00000461221.5:c.*3420del	ENSP00000418548.1:n.*3420del
ENST00000468300.5:c.788-862del	ENSP00000417148.1:n.788-862del
ENST00000471181.6:c.3637del	ENSP00000418960.2:p.Glu1213LysfsTer22
ENST00000478531.5:c.785-862del	ENSP00000420412.1:n.785-862del
ENST00000484087.5:c.410-862del	ENSP00000419481.1:n.410-862del
ENST00000487825.5:c.413-862del	ENSP00000418212.1:n.413-862del
ENST00000491747.6:c.788-862del	ENSP00000420705.2:n.788-862del
ENST00000493795.5:c.3496del	ENSP00000418775.1:p.Glu1166LysfsTer22
ENST00000493919.5:c.647-862del	ENSP00000418819.1:n.647-862del
ENST00000586385.5:c.5-27943del	ENSP00000465818.1:n.5-27943del
ENST00000591534.5:c.-43-17373del	ENSP00000467329.1:n.-43-17373del
ENST00000591849.5:c.-99+33377del	ENSP00000465347.1:n.-99+33377del
NM_007294.3:c.3637del , LRG_292t1:c.3637del	NP_009225.1:p.Glu1213LysfsTer22
NM_007297.3:c.3496del	NP_009228.2:p.Glu1166LysfsTer22
NM_007298.3:c.788-862del	NP_009229.2:n.788-862del
NM_007299.3:c.788-862del	NP_009230.2:n.788-862del
NM_007300.3:c.3637del	NP_009231.2:p.Glu1213LysfsTer22
NR_027676.1:n.3773del
NM_007294.4:c.3637del MANE Select	NP_009225.1:p.Glu1213LysfsTer22
NM_007297.4:c.3496del	NP_009228.2:p.Glu1166LysfsTer22
NM_007299.4:c.788-862del	NP_009230.2:n.788-862del
NM_007300.4:c.3637del	NP_009231.2:p.Glu1213LysfsTer22
NR_027676.2:n.3814del