Canonical Allele Identifier: CA002297

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91609
• ClinVar RCV Id: RCV000077126 ; RCV000772126 ; RCV001854353
• dbSNP Id: rs398122674
• MyVariant Identifiers: chr17:g.41243948_41243949del (hg19) ; chr17:g.43091931_43091932del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091931_43091932del , CM000679.2:g.43091931_43091932del	GRCh38
NC_000017.10:g.41243948_41243949del , CM000679.1:g.41243948_41243949del	GRCh37
NC_000017.9:g.38497474_38497475del	NCBI36
NG_005905.2:g.126052_126053del , LRG_292:g.126052_126053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3663_3664del
ENST00000461574.2:c.3599_3600del	ENSP00000417241.2:p.Gln1200ArgfsTer18
ENST00000470026.6:c.3599_3600del	ENSP00000419274.2:p.Gln1200ArgfsTer18
ENST00000473961.6:c.3473_3474del	ENSP00000420201.2:p.Gln1158ArgfsTer18
ENST00000476777.6:c.3596_3597del	ENSP00000417554.2:p.Gln1199ArgfsTer18
ENST00000477152.6:c.3521_3522del	ENSP00000419988.2:p.Gln1174ArgfsTer18
ENST00000478531.6:c.785-900_785-899del	ENSP00000420412.2:n.785-900_785-899del
ENST00000489037.2:c.3521_3522del	ENSP00000420781.2:p.Gln1174ArgfsTer18
ENST00000493919.6:c.647-900_647-899del	ENSP00000418819.2:n.647-900_647-899del
ENST00000494123.6:c.3599_3600del	ENSP00000419103.2:p.Gln1200ArgfsTer18
ENST00000497488.2:c.2711_2712del	ENSP00000418986.2:p.Gln904ArgfsTer18
ENST00000618469.2:c.3599_3600del	ENSP00000478114.2:p.Gln1200ArgfsTer18
ENST00000634433.2:c.3476_3477del	ENSP00000489431.2:p.Gln1159ArgfsTer18
ENST00000644379.2:c.3599_3600del	ENSP00000496570.2:p.Gln1200ArgfsTer18
ENST00000644555.2:c.647-900_647-899del	ENSP00000494614.2:n.647-900_647-899del
ENST00000652672.2:c.3458_3459del	ENSP00000498906.2:p.Gln1153ArgfsTer18
ENST00000484087.6:c.665-900_665-899del	ENSP00000419481.2:n.665-900_665-899del
ENST00000700182.1:c.707-900_707-899del	ENSP00000514849.1:n.707-900_707-899del
ENST00000357654.9:c.3599_3600del MANE Select	ENSP00000350283.3:p.Gln1200ArgfsTer18
ENST00000471181.7:c.3599_3600del	ENSP00000418960.2:p.Gln1200ArgfsTer18
ENST00000352993.7:c.671-900_671-899del	ENSP00000312236.5:n.671-900_671-899del
ENST00000354071.7:c.3599_3600del	ENSP00000326002.7:p.Gln1200ArgfsTer18
ENST00000357654.7:c.3599_3600del	ENSP00000350283.3:p.Gln1200ArgfsTer18
ENST00000461221.5:c.*3382_*3383del	ENSP00000418548.1:n.*3382_*3383del
ENST00000468300.5:c.788-900_788-899del	ENSP00000417148.1:n.788-900_788-899del
ENST00000471181.6:c.3599_3600del	ENSP00000418960.2:p.Gln1200ArgfsTer18
ENST00000478531.5:c.785-900_785-899del	ENSP00000420412.1:n.785-900_785-899del
ENST00000484087.5:c.410-900_410-899del	ENSP00000419481.1:n.410-900_410-899del
ENST00000487825.5:c.413-900_413-899del	ENSP00000418212.1:n.413-900_413-899del
ENST00000491747.6:c.788-900_788-899del	ENSP00000420705.2:n.788-900_788-899del
ENST00000493795.5:c.3458_3459del	ENSP00000418775.1:p.Gln1153ArgfsTer18
ENST00000493919.5:c.647-900_647-899del	ENSP00000418819.1:n.647-900_647-899del
ENST00000586385.5:c.5-27981_5-27980del	ENSP00000465818.1:n.5-27981_5-27980del
ENST00000591534.5:c.-43-17411_-43-17410del	ENSP00000467329.1:n.-43-17411_-43-17410del
ENST00000591849.5:c.-99+33339_-99+33340del	ENSP00000465347.1:n.-99+33339_-99+33340del
NM_007294.3:c.3599_3600del , LRG_292t1:c.3599_3600del	NP_009225.1:p.Gln1200ArgfsTer18
NM_007297.3:c.3458_3459del	NP_009228.2:p.Gln1153ArgfsTer18
NM_007298.3:c.788-900_788-899del	NP_009229.2:n.788-900_788-899del
NM_007299.3:c.788-900_788-899del	NP_009230.2:n.788-900_788-899del
NM_007300.3:c.3599_3600del	NP_009231.2:p.Gln1200ArgfsTer18
NR_027676.1:n.3735_3736del
NM_007294.4:c.3599_3600del MANE Select	NP_009225.1:p.Gln1200ArgfsTer18
NM_007297.4:c.3458_3459del	NP_009228.2:p.Gln1153ArgfsTer18
NM_007299.4:c.788-900_788-899del	NP_009230.2:n.788-900_788-899del
NM_007300.4:c.3599_3600del	NP_009231.2:p.Gln1200ArgfsTer18
NR_027676.2:n.3776_3777del