Canonical Allele Identifier: CA2556619336
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091465_43091466insGCA , CM000679.2:g.43091465_43091466insGCA GRCh38
NC_000017.10:g.41243482_41243483insGCA , CM000679.1:g.41243482_41243483insGCA GRCh37
NC_000017.9:g.38497008_38497009insGCA NCBI36
NG_005905.2:g.126518_126519insTGC , LRG_292:g.126518_126519insTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4129_4130insTGC
ENST00000461574.2:c.4065_4066insTGC ENSP00000417241.2:p.Asn1355_Gln1356insCys
ENST00000470026.6:c.4065_4066insTGC ENSP00000419274.2:p.Asn1355_Gln1356insCys
ENST00000473961.6:c.3939_3940insTGC ENSP00000420201.2:p.Asn1313_Gln1314insCys
ENST00000476777.6:c.4062_4063insTGC ENSP00000417554.2:p.Asn1354_Gln1355insCys
ENST00000477152.6:c.3987_3988insTGC ENSP00000419988.2:p.Asn1329_Gln1330insCys
ENST00000478531.6:c.785-434_785-433insTGC ENSP00000420412.2:n.785-434_785-433insTGC
ENST00000489037.2:c.3987_3988insTGC ENSP00000420781.2:p.Asn1329_Gln1330insCys
ENST00000493919.6:c.647-434_647-433insTGC ENSP00000418819.2:n.647-434_647-433insTGC
ENST00000494123.6:c.4065_4066insTGC ENSP00000419103.2:p.Asn1355_Gln1356insCys
ENST00000497488.2:c.3177_3178insTGC ENSP00000418986.2:p.Asn1059_Gln1060insCys
ENST00000618469.2:c.4065_4066insTGC ENSP00000478114.2:p.Asn1355_Gln1356insCys
ENST00000634433.2:c.3942_3943insTGC ENSP00000489431.2:p.Asn1314_Gln1315insCys
ENST00000644379.2:c.4065_4066insTGC ENSP00000496570.2:p.Asn1355_Gln1356insCys
ENST00000644555.2:c.647-434_647-433insTGC ENSP00000494614.2:n.647-434_647-433insTGC
ENST00000652672.2:c.3924_3925insTGC ENSP00000498906.2:p.Asn1308_Gln1309insCys
ENST00000484087.6:c.665-434_665-433insTGC ENSP00000419481.2:n.665-434_665-433insTGC
ENST00000700182.1:c.707-434_707-433insTGC ENSP00000514849.1:n.707-434_707-433insTGC
ENST00000357654.9:c.4065_4066insTGC MANE Select ENSP00000350283.3:p.Asn1355_Gln1356insCys
ENST00000471181.7:c.4065_4066insTGC ENSP00000418960.2:p.Asn1355_Gln1356insCys
ENST00000644379.1:c.386_387insTGC
ENST00000352993.7:c.671-434_671-433insTGC ENSP00000312236.5:n.671-434_671-433insTGC
ENST00000354071.7:c.4065_4066insTGC ENSP00000326002.7:p.Asn1355_Gln1356insCys
ENST00000357654.7:c.4065_4066insTGC ENSP00000350283.3:p.Asn1355_Gln1356insCys
ENST00000461221.5:c.*3848_*3849insTGC ENSP00000418548.1:n.*3848_*3849insTGC
ENST00000461574.1:c.359_360insTGC
ENST00000468300.5:c.788-434_788-433insTGC ENSP00000417148.1:n.788-434_788-433insTGC
ENST00000471181.6:c.4065_4066insTGC ENSP00000418960.2:p.Asn1355_Gln1356insCys
ENST00000478531.5:c.785-434_785-433insTGC ENSP00000420412.1:n.785-434_785-433insTGC
ENST00000484087.5:c.410-434_410-433insTGC ENSP00000419481.1:n.410-434_410-433insTGC
ENST00000487825.5:c.413-434_413-433insTGC ENSP00000418212.1:n.413-434_413-433insTGC
ENST00000491747.6:c.788-434_788-433insTGC ENSP00000420705.2:n.788-434_788-433insTGC
ENST00000493795.5:c.3924_3925insTGC ENSP00000418775.1:p.Asn1308_Gln1309insCys
ENST00000493919.5:c.647-434_647-433insTGC ENSP00000418819.1:n.647-434_647-433insTGC
ENST00000586385.5:c.5-27515_5-27514insTGC ENSP00000465818.1:n.5-27515_5-27514insTGC
ENST00000591534.5:c.-43-16945_-43-16944insTGC ENSP00000467329.1:n.-43-16945_-43-16944insTGC
ENST00000591849.5:c.-99+33805_-99+33806insTGC ENSP00000465347.1:n.-99+33805_-99+33806insTGC
NM_007294.3:c.4065_4066insTGC , LRG_292t1:c.4065_4066insTGC NP_009225.1:p.Asn1355_Gln1356insCys
NM_007297.3:c.3924_3925insTGC NP_009228.2:p.Asn1308_Gln1309insCys
NM_007298.3:c.788-434_788-433insTGC NP_009229.2:n.788-434_788-433insTGC
NM_007299.3:c.788-434_788-433insTGC NP_009230.2:n.788-434_788-433insTGC
NM_007300.3:c.4065_4066insTGC NP_009231.2:p.Asn1355_Gln1356insCys
NR_027676.1:n.4201_4202insTGC
NM_007294.4:c.4065_4066insTGC MANE Select NP_009225.1:p.Asn1355_Gln1356insCys
NM_007297.4:c.3924_3925insTGC NP_009228.2:p.Asn1308_Gln1309insCys
NM_007299.4:c.788-434_788-433insTGC NP_009230.2:n.788-434_788-433insTGC
NM_007300.4:c.4065_4066insTGC NP_009231.2:p.Asn1355_Gln1356insCys
NR_027676.2:n.4242_4243insTGC