Canonical Allele Identifier: CA003424

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125812
• ClinVar RCV Id: RCV000112590
• dbSNP Id: rs273901756
• MyVariant Identifiers: chr17:g.41209020_41209021insGGAGTGGAATAC (hg19) ; chr17:g.43057003_43057004insGGAGTGGAATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057003_43057004insGGAGTGGAATAC , CM000679.2:g.43057003_43057004insGGAGTGGAATAC	GRCh38
NC_000017.10:g.41209020_41209021insGGAGTGGAATAC , CM000679.1:g.41209020_41209021insGGAGTGGAATAC	GRCh37
NC_000017.9:g.38462546_38462547insGGAGTGGAATAC	NCBI36
NG_005905.2:g.160980_160981insGTATTCCACTCC , LRG_292:g.160980_160981insGTATTCCACTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5274+48_5274+49insGTATTCCACTCC	ENSP00000417241.2:n.5274+48_5274+49insGTATTCCACTCC
ENST00000470026.6:c.5277+48_5277+49insGTATTCCACTCC	ENSP00000419274.2:n.5277+48_5277+49insGTATTCCACTCC
ENST00000473961.6:c.5151+48_5151+49insGTATTCCACTCC	ENSP00000420201.2:n.5151+48_5151+49insGTATTCCACTCC
ENST00000476777.6:c.5271+48_5271+49insGTATTCCACTCC	ENSP00000417554.2:n.5271+48_5271+49insGTATTCCACTCC
ENST00000477152.6:c.5199+48_5199+49insGTATTCCACTCC	ENSP00000419988.2:n.5199+48_5199+49insGTATTCCACTCC
ENST00000478531.6:c.1965+48_1965+49insGTATTCCACTCC	ENSP00000420412.2:n.1965+48_1965+49insGTATTCCACTCC
ENST00000489037.2:c.5199+48_5199+49insGTATTCCACTCC	ENSP00000420781.2:n.5199+48_5199+49insGTATTCCACTCC
ENST00000493919.6:c.1827+48_1827+49insGTATTCCACTCC	ENSP00000418819.2:n.1827+48_1827+49insGTATTCCACTCC
ENST00000494123.6:c.5277+48_5277+49insGTATTCCACTCC	ENSP00000419103.2:n.5277+48_5277+49insGTATTCCACTCC
ENST00000497488.2:c.4389+48_4389+49insGTATTCCACTCC	ENSP00000418986.2:n.4389+48_4389+49insGTATTCCACTCC
ENST00000618469.2:c.5277+48_5277+49insGTATTCCACTCC	ENSP00000478114.2:n.5277+48_5277+49insGTATTCCACTCC
ENST00000634433.2:c.5154+48_5154+49insGTATTCCACTCC	ENSP00000489431.2:n.5154+48_5154+49insGTATTCCACTCC
ENST00000644379.2:c.5343+48_5343+49insGTATTCCACTCC	ENSP00000496570.2:n.5343+48_5343+49insGTATTCCACTCC
ENST00000644555.2:c.1827+48_1827+49insGTATTCCACTCC	ENSP00000494614.2:n.1827+48_1827+49insGTATTCCACTCC
ENST00000652672.2:c.5136+48_5136+49insGTATTCCACTCC	ENSP00000498906.2:n.5136+48_5136+49insGTATTCCACTCC
ENST00000484087.6:c.1839+48_1839+49insGTATTCCACTCC	ENSP00000419481.2:n.1839+48_1839+49insGTATTCCACTCC
ENST00000357654.9:c.5277+48_5277+49insGTATTCCACTCC MANE Select	ENSP00000350283.3:n.5277+48_5277+49insGTATTCCACTCC
ENST00000471181.7:c.5340+48_5340+49insGTATTCCACTCC	ENSP00000418960.2:n.5340+48_5340+49insGTATTCCACTCC
ENST00000644379.1:c.1664+48_1664+49insGTATTCCACTCC
ENST00000352993.7:c.1851+48_1851+49insGTATTCCACTCC	ENSP00000312236.5:n.1851+48_1851+49insGTATTCCACTCC
ENST00000357654.7:c.5277+48_5277+49insGTATTCCACTCC	ENSP00000350283.3:n.5277+48_5277+49insGTATTCCACTCC
ENST00000461221.5:c.*5060+48_*5060+49insGTATTCCACTCC	ENSP00000418548.1:n.*5060+48_*5060+49insGTATTCCACTCC
ENST00000468300.5:c.1965+48_1965+49insGTATTCCACTCC	ENSP00000417148.1:n.1965+48_1965+49insGTATTCCACTCC
ENST00000471181.6:c.5340+48_5340+49insGTATTCCACTCC	ENSP00000418960.2:n.5340+48_5340+49insGTATTCCACTCC
ENST00000491747.6:c.1965+48_1965+49insGTATTCCACTCC	ENSP00000420705.2:n.1965+48_1965+49insGTATTCCACTCC
ENST00000493795.5:c.5136+48_5136+49insGTATTCCACTCC	ENSP00000418775.1:n.5136+48_5136+49insGTATTCCACTCC
ENST00000586385.5:c.207+48_207+49insGTATTCCACTCC	ENSP00000465818.1:n.207+48_207+49insGTATTCCACTCC
ENST00000591534.5:c.750+48_750+49insGTATTCCACTCC	ENSP00000467329.1:n.750+48_750+49insGTATTCCACTCC
ENST00000591849.5:c.-98-6814_-98-6813insGTATTCCACTCC	ENSP00000465347.1:n.-98-6814_-98-6813insGTATTCCACTCC
NM_007294.3:c.5277+48_5277+49insGTATTCCACTCC , LRG_292t1:c.5277+48_5277+49insGTATTCCACTCC	NP_009225.1:n.5277+48_5277+49insGTATTCCACTCC
NM_007297.3:c.5136+48_5136+49insGTATTCCACTCC	NP_009228.2:n.5136+48_5136+49insGTATTCCACTCC
NM_007298.3:c.1965+48_1965+49insGTATTCCACTCC	NP_009229.2:n.1965+48_1965+49insGTATTCCACTCC
NM_007299.3:c.1965+48_1965+49insGTATTCCACTCC	NP_009230.2:n.1965+48_1965+49insGTATTCCACTCC
NM_007300.3:c.5340+48_5340+49insGTATTCCACTCC	NP_009231.2:n.5340+48_5340+49insGTATTCCACTCC
NR_027676.1:n.5413+48_5413+49insGTATTCCACTCC
NM_007294.4:c.5277+48_5277+49insGTATTCCACTCC MANE Select	NP_009225.1:n.5277+48_5277+49insGTATTCCACTCC
NM_007297.4:c.5136+48_5136+49insGTATTCCACTCC	NP_009228.2:n.5136+48_5136+49insGTATTCCACTCC
NM_007299.4:c.1965+48_1965+49insGTATTCCACTCC	NP_009230.2:n.1965+48_1965+49insGTATTCCACTCC
NM_007300.4:c.5340+48_5340+49insGTATTCCACTCC	NP_009231.2:n.5340+48_5340+49insGTATTCCACTCC
NR_027676.2:n.5454+48_5454+49insGTATTCCACTCC