Canonical Allele Identifier: CA2260772860
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071036_43071037delinsAT , CM000679.2:g.43071036_43071037delinsAT GRCh38
NC_000017.10:g.41223053_41223054delinsAT , CM000679.1:g.41223053_41223054delinsAT GRCh37
NC_000017.9:g.38476579_38476580delinsAT NCBI36
NG_005905.2:g.146947_146948delinsAT , LRG_292:g.146947_146948delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4874_4875delinsAT ENSP00000417241.2:p.Asn1625=
ENST00000470026.6:c.4877_4878delinsAT ENSP00000419274.2:p.Asn1626=
ENST00000473961.6:c.4751_4752delinsAT ENSP00000420201.2:p.Asn1584=
ENST00000476777.6:c.4871_4872delinsAT ENSP00000417554.2:p.Asn1624=
ENST00000477152.6:c.4799_4800delinsAT ENSP00000419988.2:p.Asn1600=
ENST00000478531.6:c.1565_1566delinsAT ENSP00000420412.2:p.Asn522=
ENST00000489037.2:c.4799_4800delinsAT ENSP00000420781.2:p.Asn1600=
ENST00000493919.6:c.1427_1428delinsAT ENSP00000418819.2:p.Asn476=
ENST00000494123.6:c.4877_4878delinsAT ENSP00000419103.2:p.Asn1626=
ENST00000497488.2:c.3989_3990delinsAT ENSP00000418986.2:p.Asn1330=
ENST00000618469.2:c.4877_4878delinsAT ENSP00000478114.2:p.Asn1626=
ENST00000634433.2:c.4754_4755delinsAT ENSP00000489431.2:p.Asn1585=
ENST00000644379.2:c.4943_4944delinsAT ENSP00000496570.2:p.Asn1648=
ENST00000644555.2:c.1427_1428delinsAT ENSP00000494614.2:p.Asn476=
ENST00000652672.2:c.4736_4737delinsAT ENSP00000498906.2:p.Asn1579=
ENST00000484087.6:c.1439_1440delinsAT ENSP00000419481.2:p.Asn480=
ENST00000700182.1:c.1484_1485delinsAT ENSP00000514849.1:p.Asn495=
ENST00000357654.9:c.4877_4878delinsAT MANE Select ENSP00000350283.3:p.Asn1626=
ENST00000471181.7:c.4940_4941delinsAT ENSP00000418960.2:p.Asn1647=
ENST00000644379.1:c.1264_1265delinsAT
ENST00000352993.7:c.1451_1452delinsAT ENSP00000312236.5:p.Asn484=
ENST00000357654.7:c.4877_4878delinsAT ENSP00000350283.3:p.Asn1626=
ENST00000461221.5:c.*4660_*4661delinsAT ENSP00000418548.1:n.*4660_*4661delinsAT
ENST00000468300.5:c.1565_1566delinsAT ENSP00000417148.1:p.Asn522=
ENST00000471181.6:c.4940_4941delinsAT ENSP00000418960.2:p.Asn1647=
ENST00000472490.1:n.30_31delinsAT
ENST00000478531.5:c.1565_1566delinsAT ENSP00000420412.1:p.Asn522=
ENST00000484087.5:c.1190_1191delinsAT ENSP00000419481.1:p.Asn397=
ENST00000491747.6:c.1565_1566delinsAT ENSP00000420705.2:p.Asn522=
ENST00000493795.5:c.4736_4737delinsAT ENSP00000418775.1:p.Asn1579=
ENST00000493919.5:c.1427_1428delinsAT ENSP00000418819.1:p.Asn476=
ENST00000586385.5:c.5-7086_5-7085delinsAT ENSP00000465818.1:n.5-7086_5-7085delinsAT
ENST00000591534.5:c.350_351delinsAT ENSP00000467329.1:p.Asn117=
ENST00000591849.5:c.-98-20847_-98-20846delinsAT ENSP00000465347.1:n.-98-20847_-98-20846delinsAT
NM_007294.3:c.4877_4878delinsAT , LRG_292t1:c.4877_4878delinsAT NP_009225.1:p.Asn1626=
NM_007297.3:c.4736_4737delinsAT NP_009228.2:p.Asn1579=
NM_007298.3:c.1565_1566delinsAT NP_009229.2:p.Asn522=
NM_007299.3:c.1565_1566delinsAT NP_009230.2:p.Asn522=
NM_007300.3:c.4940_4941delinsAT NP_009231.2:p.Asn1647=
NR_027676.1:n.5013_5014delinsAT
NM_007294.4:c.4877_4878delinsAT MANE Select NP_009225.1:p.Asn1626=
NM_007297.4:c.4736_4737delinsAT NP_009228.2:p.Asn1579=
NM_007299.4:c.1565_1566delinsAT NP_009230.2:p.Asn522=
NM_007300.4:c.4940_4941delinsAT NP_009231.2:p.Asn1647=
NR_027676.2:n.5054_5055delinsAT