Canonical Allele Identifier: CA915950129

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 823517
• ClinVar RCV Id: RCV001019820
• dbSNP Id: rs1597864491

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092225_43092228del , CM000679.2:g.43092225_43092228del	GRCh38
NC_000017.10:g.41244242_41244245del , CM000679.1:g.41244242_41244245del	GRCh37
NC_000017.9:g.38497768_38497771del	NCBI36
NG_005905.2:g.125757_125760del , LRG_292:g.125757_125760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3368_3371del
ENST00000461574.2:c.3304_3307del	ENSP00000417241.2:p.Asn1102ValfsTer6
ENST00000470026.6:c.3304_3307del	ENSP00000419274.2:p.Asn1102ValfsTer6
ENST00000473961.6:c.3178_3181del	ENSP00000420201.2:p.Asn1060ValfsTer6
ENST00000476777.6:c.3301_3304del	ENSP00000417554.2:p.Asn1101ValfsTer6
ENST00000477152.6:c.3226_3229del	ENSP00000419988.2:p.Asn1076ValfsTer6
ENST00000478531.6:c.785-1195_785-1192del	ENSP00000420412.2:n.785-1195_785-1192del
ENST00000489037.2:c.3226_3229del	ENSP00000420781.2:p.Asn1076ValfsTer6
ENST00000493919.6:c.647-1195_647-1192del	ENSP00000418819.2:n.647-1195_647-1192del
ENST00000494123.6:c.3304_3307del	ENSP00000419103.2:p.Asn1102ValfsTer6
ENST00000497488.2:c.2416_2419del	ENSP00000418986.2:p.Asn806ValfsTer6
ENST00000618469.2:c.3304_3307del	ENSP00000478114.2:p.Asn1102ValfsTer6
ENST00000634433.2:c.3181_3184del	ENSP00000489431.2:p.Asn1061ValfsTer6
ENST00000644379.2:c.3304_3307del	ENSP00000496570.2:p.Asn1102ValfsTer6
ENST00000644555.2:c.647-1195_647-1192del	ENSP00000494614.2:n.647-1195_647-1192del
ENST00000652672.2:c.3163_3166del	ENSP00000498906.2:p.Asn1055ValfsTer6
ENST00000484087.6:c.665-1195_665-1192del	ENSP00000419481.2:n.665-1195_665-1192del
ENST00000700182.1:c.707-1195_707-1192del	ENSP00000514849.1:n.707-1195_707-1192del
ENST00000357654.9:c.3304_3307del MANE Select	ENSP00000350283.3:p.Asn1102ValfsTer6
ENST00000471181.7:c.3304_3307del	ENSP00000418960.2:p.Asn1102ValfsTer6
ENST00000352993.7:c.671-1195_671-1192del	ENSP00000312236.5:n.671-1195_671-1192del
ENST00000354071.7:c.3304_3307del	ENSP00000326002.7:p.Asn1102ValfsTer6
ENST00000357654.7:c.3304_3307del	ENSP00000350283.3:p.Asn1102ValfsTer6
ENST00000461221.5:c.*3087_*3090del	ENSP00000418548.1:n.*3087_*3090del
ENST00000468300.5:c.788-1195_788-1192del	ENSP00000417148.1:n.788-1195_788-1192del
ENST00000471181.6:c.3304_3307del	ENSP00000418960.2:p.Asn1102ValfsTer6
ENST00000478531.5:c.785-1195_785-1192del	ENSP00000420412.1:n.785-1195_785-1192del
ENST00000484087.5:c.410-1195_410-1192del	ENSP00000419481.1:n.410-1195_410-1192del
ENST00000487825.5:c.413-1195_413-1192del	ENSP00000418212.1:n.413-1195_413-1192del
ENST00000491747.6:c.788-1195_788-1192del	ENSP00000420705.2:n.788-1195_788-1192del
ENST00000493795.5:c.3163_3166del	ENSP00000418775.1:p.Asn1055ValfsTer6
ENST00000493919.5:c.647-1195_647-1192del	ENSP00000418819.1:n.647-1195_647-1192del
ENST00000586385.5:c.5-28276_5-28273del	ENSP00000465818.1:n.5-28276_5-28273del
ENST00000591534.5:c.-43-17706_-43-17703del	ENSP00000467329.1:n.-43-17706_-43-17703del
ENST00000591849.5:c.-99+33044_-99+33047del	ENSP00000465347.1:n.-99+33044_-99+33047del
NM_007294.3:c.3304_3307del , LRG_292t1:c.3304_3307del	NP_009225.1:p.Asn1102ValfsTer6
NM_007297.3:c.3163_3166del	NP_009228.2:p.Asn1055ValfsTer6
NM_007298.3:c.788-1195_788-1192del	NP_009229.2:n.788-1195_788-1192del
NM_007299.3:c.788-1195_788-1192del	NP_009230.2:n.788-1195_788-1192del
NM_007300.3:c.3304_3307del	NP_009231.2:p.Asn1102ValfsTer6
NR_027676.1:n.3440_3443del
NM_007294.4:c.3304_3307del MANE Select	NP_009225.1:p.Asn1102ValfsTer6
NM_007297.4:c.3163_3166del	NP_009228.2:p.Asn1055ValfsTer6
NM_007299.4:c.788-1195_788-1192del	NP_009230.2:n.788-1195_788-1192del
NM_007300.4:c.3304_3307del	NP_009231.2:p.Asn1102ValfsTer6
NR_027676.2:n.3481_3484del