Canonical Allele Identifier: CA059069

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254448
• ClinVar RCV Id: RCV000241051
• dbSNP Id: rs754792932
• ExAC: 17:41243539 CACTCAGACCA / C
• gnomAD v2: 17-41243539-CACTCAGACCA-C
• gnomAD v4: 17-43091522-CACTCAGACCA-C
• MyVariant Identifiers: chr17:g.41243540_41243549del (hg19) ; chr17:g.43091523_43091532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091527_43091536del , CM000679.2:g.43091527_43091536del	GRCh38
NC_000017.10:g.41243544_41243553del , CM000679.1:g.41243544_41243553del	GRCh37
NC_000017.9:g.38497070_38497079del	NCBI36
NG_005905.2:g.126452_126461del , LRG_292:g.126452_126461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4063_4072del
ENST00000461574.2:c.3999_4008del	ENSP00000417241.2:p.Gly1334ThrfsTer29
ENST00000470026.6:c.3999_4008del	ENSP00000419274.2:p.Gly1334ThrfsTer29
ENST00000473961.6:c.3873_3882del	ENSP00000420201.2:p.Gly1292ThrfsTer29
ENST00000476777.6:c.3996_4005del	ENSP00000417554.2:p.Gly1333ThrfsTer29
ENST00000477152.6:c.3921_3930del	ENSP00000419988.2:p.Gly1308ThrfsTer29
ENST00000478531.6:c.785-500_785-491del	ENSP00000420412.2:n.785-500_785-491del
ENST00000489037.2:c.3921_3930del	ENSP00000420781.2:p.Gly1308ThrfsTer29
ENST00000493919.6:c.647-500_647-491del	ENSP00000418819.2:n.647-500_647-491del
ENST00000494123.6:c.3999_4008del	ENSP00000419103.2:p.Gly1334ThrfsTer29
ENST00000497488.2:c.3111_3120del	ENSP00000418986.2:p.Gly1038ThrfsTer29
ENST00000618469.2:c.3999_4008del	ENSP00000478114.2:p.Gly1334ThrfsTer29
ENST00000634433.2:c.3876_3885del	ENSP00000489431.2:p.Gly1293ThrfsTer29
ENST00000644379.2:c.3999_4008del	ENSP00000496570.2:p.Gly1334ThrfsTer29
ENST00000644555.2:c.647-500_647-491del	ENSP00000494614.2:n.647-500_647-491del
ENST00000652672.2:c.3858_3867del	ENSP00000498906.2:p.Gly1287ThrfsTer29
ENST00000484087.6:c.665-500_665-491del	ENSP00000419481.2:n.665-500_665-491del
ENST00000700182.1:c.707-500_707-491del	ENSP00000514849.1:n.707-500_707-491del
ENST00000357654.9:c.3999_4008del MANE Select	ENSP00000350283.3:p.Gly1334ThrfsTer29
ENST00000471181.7:c.3999_4008del	ENSP00000418960.2:p.Gly1334ThrfsTer29
ENST00000644379.1:c.320_329del
ENST00000352993.7:c.671-500_671-491del	ENSP00000312236.5:n.671-500_671-491del
ENST00000354071.7:c.3999_4008del	ENSP00000326002.7:p.Gly1334ThrfsTer29
ENST00000357654.7:c.3999_4008del	ENSP00000350283.3:p.Gly1334ThrfsTer29
ENST00000461221.5:c.*3782_*3791del	ENSP00000418548.1:n.*3782_*3791del
ENST00000461574.1:c.293_302del
ENST00000468300.5:c.788-500_788-491del	ENSP00000417148.1:n.788-500_788-491del
ENST00000471181.6:c.3999_4008del	ENSP00000418960.2:p.Gly1334ThrfsTer29
ENST00000478531.5:c.785-500_785-491del	ENSP00000420412.1:n.785-500_785-491del
ENST00000484087.5:c.410-500_410-491del	ENSP00000419481.1:n.410-500_410-491del
ENST00000487825.5:c.413-500_413-491del	ENSP00000418212.1:n.413-500_413-491del
ENST00000491747.6:c.788-500_788-491del	ENSP00000420705.2:n.788-500_788-491del
ENST00000493795.5:c.3858_3867del	ENSP00000418775.1:p.Gly1287ThrfsTer29
ENST00000493919.5:c.647-500_647-491del	ENSP00000418819.1:n.647-500_647-491del
ENST00000586385.5:c.5-27581_5-27572del	ENSP00000465818.1:n.5-27581_5-27572del
ENST00000591534.5:c.-43-17011_-43-17002del	ENSP00000467329.1:n.-43-17011_-43-17002del
ENST00000591849.5:c.-99+33739_-99+33748del	ENSP00000465347.1:n.-99+33739_-99+33748del
NM_007294.3:c.3999_4008del , LRG_292t1:c.3999_4008del	NP_009225.1:p.Gly1334ThrfsTer29
NM_007297.3:c.3858_3867del	NP_009228.2:p.Gly1287ThrfsTer29
NM_007298.3:c.788-500_788-491del	NP_009229.2:n.788-500_788-491del
NM_007299.3:c.788-500_788-491del	NP_009230.2:n.788-500_788-491del
NM_007300.3:c.3999_4008del	NP_009231.2:p.Gly1334ThrfsTer29
NR_027676.1:n.4135_4144del
NM_007294.4:c.3999_4008del MANE Select	NP_009225.1:p.Gly1334ThrfsTer29
NM_007297.4:c.3858_3867del	NP_009228.2:p.Gly1287ThrfsTer29
NM_007299.4:c.788-500_788-491del	NP_009230.2:n.788-500_788-491del
NM_007300.4:c.3999_4008del	NP_009231.2:p.Gly1334ThrfsTer29
NR_027676.2:n.4176_4185del