Canonical Allele Identifier: CA16615383

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 409338
• ClinVar RCV Id: RCV000458817 ; RCV000661037
• dbSNP Id: rs1060502345

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091465_43091467delinsA , CM000679.2:g.43091465_43091467delinsA	GRCh38
NC_000017.10:g.41243482_41243484delinsA , CM000679.1:g.41243482_41243484delinsA	GRCh37
NC_000017.9:g.38497008_38497010delinsA	NCBI36
NG_005905.2:g.126517_126519delinsT , LRG_292:g.126517_126519delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4128_4130delinsT
ENST00000461574.2:c.4064_4066delinsT	ENSP00000417241.2:p.Asn1355IlefsTer12
ENST00000470026.6:c.4064_4066delinsT	ENSP00000419274.2:p.Asn1355IlefsTer12
ENST00000473961.6:c.3938_3940delinsT	ENSP00000420201.2:p.Asn1313IlefsTer12
ENST00000476777.6:c.4061_4063delinsT	ENSP00000417554.2:p.Asn1354IlefsTer12
ENST00000477152.6:c.3986_3988delinsT	ENSP00000419988.2:p.Asn1329IlefsTer12
ENST00000478531.6:c.785-435_785-433delinsT	ENSP00000420412.2:n.785-435_785-433delinsT
ENST00000489037.2:c.3986_3988delinsT	ENSP00000420781.2:p.Asn1329IlefsTer12
ENST00000493919.6:c.647-435_647-433delinsT	ENSP00000418819.2:n.647-435_647-433delinsT
ENST00000494123.6:c.4064_4066delinsT	ENSP00000419103.2:p.Asn1355IlefsTer12
ENST00000497488.2:c.3176_3178delinsT	ENSP00000418986.2:p.Asn1059IlefsTer12
ENST00000618469.2:c.4064_4066delinsT	ENSP00000478114.2:p.Asn1355IlefsTer12
ENST00000634433.2:c.3941_3943delinsT	ENSP00000489431.2:p.Asn1314IlefsTer12
ENST00000644379.2:c.4064_4066delinsT	ENSP00000496570.2:p.Asn1355IlefsTer12
ENST00000644555.2:c.647-435_647-433delinsT	ENSP00000494614.2:n.647-435_647-433delinsT
ENST00000652672.2:c.3923_3925delinsT	ENSP00000498906.2:p.Asn1308IlefsTer12
ENST00000484087.6:c.665-435_665-433delinsT	ENSP00000419481.2:n.665-435_665-433delinsT
ENST00000700182.1:c.707-435_707-433delinsT	ENSP00000514849.1:n.707-435_707-433delinsT
ENST00000357654.9:c.4064_4066delinsT MANE Select	ENSP00000350283.3:p.Asn1355IlefsTer12
ENST00000471181.7:c.4064_4066delinsT	ENSP00000418960.2:p.Asn1355IlefsTer12
ENST00000644379.1:c.385_387delinsT
ENST00000352993.7:c.671-435_671-433delinsT	ENSP00000312236.5:n.671-435_671-433delinsT
ENST00000354071.7:c.4064_4066delinsT	ENSP00000326002.7:p.Asn1355IlefsTer25
ENST00000357654.7:c.4064_4066delinsT	ENSP00000350283.3:p.Asn1355IlefsTer12
ENST00000461221.5:c.*3847_*3849delinsT	ENSP00000418548.1:n.*3847_*3849delinsT
ENST00000461574.1:c.358_360delinsT
ENST00000468300.5:c.788-435_788-433delinsT	ENSP00000417148.1:n.788-435_788-433delinsT
ENST00000471181.6:c.4064_4066delinsT	ENSP00000418960.2:p.Asn1355IlefsTer12
ENST00000478531.5:c.785-435_785-433delinsT	ENSP00000420412.1:n.785-435_785-433delinsT
ENST00000484087.5:c.410-435_410-433delinsT	ENSP00000419481.1:n.410-435_410-433delinsT
ENST00000487825.5:c.413-435_413-433delinsT	ENSP00000418212.1:n.413-435_413-433delinsT
ENST00000491747.6:c.788-435_788-433delinsT	ENSP00000420705.2:n.788-435_788-433delinsT
ENST00000493795.5:c.3923_3925delinsT	ENSP00000418775.1:p.Asn1308IlefsTer12
ENST00000493919.5:c.647-435_647-433delinsT	ENSP00000418819.1:n.647-435_647-433delinsT
ENST00000586385.5:c.5-27516_5-27514delinsT	ENSP00000465818.1:n.5-27516_5-27514delinsT
ENST00000591534.5:c.-43-16946_-43-16944delinsT	ENSP00000467329.1:n.-43-16946_-43-16944delinsT
ENST00000591849.5:c.-99+33804_-99+33806delinsT	ENSP00000465347.1:n.-99+33804_-99+33806delinsT
NM_007294.3:c.4064_4066delinsT , LRG_292t1:c.4064_4066delinsT	NP_009225.1:p.Asn1355IlefsTer12
NM_007297.3:c.3923_3925delinsT	NP_009228.2:p.Asn1308IlefsTer12
NM_007298.3:c.788-435_788-433delinsT	NP_009229.2:n.788-435_788-433delinsT
NM_007299.3:c.788-435_788-433delinsT	NP_009230.2:n.788-435_788-433delinsT
NM_007300.3:c.4064_4066delinsT	NP_009231.2:p.Asn1355IlefsTer12
NR_027676.1:n.4200_4202delinsT
NM_007294.4:c.4064_4066delinsT MANE Select	NP_009225.1:p.Asn1355IlefsTer12
NM_007297.4:c.3923_3925delinsT	NP_009228.2:p.Asn1308IlefsTer12
NM_007299.4:c.788-435_788-433delinsT	NP_009230.2:n.788-435_788-433delinsT
NM_007300.4:c.4064_4066delinsT	NP_009231.2:p.Asn1355IlefsTer12
NR_027676.2:n.4241_4243delinsT