Canonical Allele Identifier: CA002433

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125653
• ClinVar RCV Id: RCV000112183
• dbSNP Id: rs80357849
• MyVariant Identifiers: chr17:g.41243769_41243770insT (hg19) ; chr17:g.43091752_43091753insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091752_43091753insT , CM000679.2:g.43091752_43091753insT	GRCh38
NC_000017.10:g.41243769_41243770insT , CM000679.1:g.41243769_41243770insT	GRCh37
NC_000017.9:g.38497295_38497296insT	NCBI36
NG_005905.2:g.126231_126232insA , LRG_292:g.126231_126232insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3842_3843insA
ENST00000461574.2:c.3778_3779insA	ENSP00000417241.2:p.Leu1260TyrfsTer7
ENST00000470026.6:c.3778_3779insA	ENSP00000419274.2:p.Leu1260TyrfsTer7
ENST00000473961.6:c.3652_3653insA	ENSP00000420201.2:p.Leu1218TyrfsTer7
ENST00000476777.6:c.3775_3776insA	ENSP00000417554.2:p.Leu1259TyrfsTer7
ENST00000477152.6:c.3700_3701insA	ENSP00000419988.2:p.Leu1234TyrfsTer7
ENST00000478531.6:c.785-721_785-720insA	ENSP00000420412.2:n.785-721_785-720insA
ENST00000489037.2:c.3700_3701insA	ENSP00000420781.2:p.Leu1234TyrfsTer7
ENST00000493919.6:c.647-721_647-720insA	ENSP00000418819.2:n.647-721_647-720insA
ENST00000494123.6:c.3778_3779insA	ENSP00000419103.2:p.Leu1260TyrfsTer7
ENST00000497488.2:c.2890_2891insA	ENSP00000418986.2:p.Leu964TyrfsTer7
ENST00000618469.2:c.3778_3779insA	ENSP00000478114.2:p.Leu1260TyrfsTer7
ENST00000634433.2:c.3655_3656insA	ENSP00000489431.2:p.Leu1219TyrfsTer7
ENST00000644379.2:c.3778_3779insA	ENSP00000496570.2:p.Leu1260TyrfsTer7
ENST00000644555.2:c.647-721_647-720insA	ENSP00000494614.2:n.647-721_647-720insA
ENST00000652672.2:c.3637_3638insA	ENSP00000498906.2:p.Leu1213TyrfsTer7
ENST00000484087.6:c.665-721_665-720insA	ENSP00000419481.2:n.665-721_665-720insA
ENST00000700182.1:c.707-721_707-720insA	ENSP00000514849.1:n.707-721_707-720insA
ENST00000357654.9:c.3778_3779insA MANE Select	ENSP00000350283.3:p.Leu1260TyrfsTer7
ENST00000471181.7:c.3778_3779insA	ENSP00000418960.2:p.Leu1260TyrfsTer7
ENST00000644379.1:c.99_100insA
ENST00000352993.7:c.671-721_671-720insA	ENSP00000312236.5:n.671-721_671-720insA
ENST00000354071.7:c.3778_3779insA	ENSP00000326002.7:p.Leu1260TyrfsTer7
ENST00000357654.7:c.3778_3779insA	ENSP00000350283.3:p.Leu1260TyrfsTer7
ENST00000461221.5:c.*3561_*3562insA	ENSP00000418548.1:n.*3561_*3562insA
ENST00000461574.1:c.72_73insA
ENST00000468300.5:c.788-721_788-720insA	ENSP00000417148.1:n.788-721_788-720insA
ENST00000471181.6:c.3778_3779insA	ENSP00000418960.2:p.Leu1260TyrfsTer7
ENST00000478531.5:c.785-721_785-720insA	ENSP00000420412.1:n.785-721_785-720insA
ENST00000484087.5:c.410-721_410-720insA	ENSP00000419481.1:n.410-721_410-720insA
ENST00000487825.5:c.413-721_413-720insA	ENSP00000418212.1:n.413-721_413-720insA
ENST00000491747.6:c.788-721_788-720insA	ENSP00000420705.2:n.788-721_788-720insA
ENST00000493795.5:c.3637_3638insA	ENSP00000418775.1:p.Leu1213TyrfsTer7
ENST00000493919.5:c.647-721_647-720insA	ENSP00000418819.1:n.647-721_647-720insA
ENST00000586385.5:c.5-27802_5-27801insA	ENSP00000465818.1:n.5-27802_5-27801insA
ENST00000591534.5:c.-43-17232_-43-17231insA	ENSP00000467329.1:n.-43-17232_-43-17231insA
ENST00000591849.5:c.-99+33518_-99+33519insA	ENSP00000465347.1:n.-99+33518_-99+33519insA
NM_007294.3:c.3778_3779insA , LRG_292t1:c.3778_3779insA	NP_009225.1:p.Leu1260TyrfsTer7
NM_007297.3:c.3637_3638insA	NP_009228.2:p.Leu1213TyrfsTer7
NM_007298.3:c.788-721_788-720insA	NP_009229.2:n.788-721_788-720insA
NM_007299.3:c.788-721_788-720insA	NP_009230.2:n.788-721_788-720insA
NM_007300.3:c.3778_3779insA	NP_009231.2:p.Leu1260TyrfsTer7
NR_027676.1:n.3914_3915insA
NM_007294.4:c.3778_3779insA MANE Select	NP_009225.1:p.Leu1260TyrfsTer7
NM_007297.4:c.3637_3638insA	NP_009228.2:p.Leu1213TyrfsTer7
NM_007299.4:c.788-721_788-720insA	NP_009230.2:n.788-721_788-720insA
NM_007300.4:c.3778_3779insA	NP_009231.2:p.Leu1260TyrfsTer7
NR_027676.2:n.3955_3956insA