Canonical Allele Identifier: CA2260762028
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047695_43047703delinsGTGGACACC , CM000679.2:g.43047695_43047703delinsGTGGACACC GRCh38
NC_000017.10:g.41199712_41199720delinsGTGGACACC , CM000679.1:g.41199712_41199720delinsGTGGACACC GRCh37
NC_000017.9:g.38453238_38453246delinsGTGGACACC NCBI36
NG_005905.2:g.170281_170289delinsGGTGTCCAC , LRG_292:g.170281_170289delinsGGTGTCCAC

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5404_5412delinsGGTGTCCAC ENSP00000417241.2:p.Gly1802=
ENST00000470026.6:c.5407_5415delinsGGTGTCCAC ENSP00000419274.2:p.Gly1803=
ENST00000473961.6:c.5281_5289delinsGGTGTCCAC ENSP00000420201.2:p.Gly1761=
ENST00000476777.6:c.5401_5409delinsGGTGTCCAC ENSP00000417554.2:p.Gly1801=
ENST00000477152.6:c.5329_5337delinsGGTGTCCAC ENSP00000419988.2:p.Gly1777=
ENST00000478531.6:c.2095_2103delinsGGTGTCCAC ENSP00000420412.2:p.Gly699=
ENST00000489037.2:c.5329_5337delinsGGTGTCCAC ENSP00000420781.2:p.Gly1777=
ENST00000493919.6:c.1957_1965delinsGGTGTCCAC ENSP00000418819.2:p.Gly653=
ENST00000494123.6:c.5407_5415delinsGGTGTCCAC ENSP00000419103.2:p.Gly1803=
ENST00000497488.2:c.4519_4527delinsGGTGTCCAC ENSP00000418986.2:p.Gly1507=
ENST00000618469.2:c.5407_5415delinsGGTGTCCAC ENSP00000478114.2:p.Gly1803=
ENST00000634433.2:c.5284_5292delinsGGTGTCCAC ENSP00000489431.2:p.Gly1762=
ENST00000644379.2:c.5473_5481delinsGGTGTCCAC ENSP00000496570.2:p.Gly1825=
ENST00000644555.2:c.1957_1965delinsGGTGTCCAC ENSP00000494614.2:p.Gly653=
ENST00000652672.2:c.5266_5274delinsGGTGTCCAC ENSP00000498906.2:p.Gly1756=
ENST00000484087.6:c.1969_1977delinsGGTGTCCAC ENSP00000419481.2:p.Gly657=
ENST00000700081.1:n.1290_1298delinsGGTGTCCAC
ENST00000700082.1:n.771_779delinsGGTGTCCAC
ENST00000357654.9:c.5407_5415delinsGGTGTCCAC MANE Select ENSP00000350283.3:p.Gly1803=
ENST00000471181.7:c.5470_5478delinsGGTGTCCAC ENSP00000418960.2:p.Gly1824=
ENST00000644379.1:c.1794_1802delinsGGTGTCCAC
ENST00000352993.7:c.1981_1989delinsGGTGTCCAC ENSP00000312236.5:p.Gly661=
ENST00000357654.7:c.5407_5415delinsGGTGTCCAC ENSP00000350283.3:p.Gly1803=
ENST00000461221.5:c.*5190_*5198delinsGGTGTCCAC ENSP00000418548.1:n.*5190_*5198delinsGGTG...
ENST00000468300.5:c.2021_2029delinsGGTGTCCAC ENSP00000417148.1:p.Gly674=
ENST00000471181.6:c.5470_5478delinsGGTGTCCAC ENSP00000418960.2:p.Gly1824=
ENST00000491747.6:c.2095_2103delinsGGTGTCCAC ENSP00000420705.2:p.Gly699=
ENST00000493795.5:c.5266_5274delinsGGTGTCCAC ENSP00000418775.1:p.Gly1756=
ENST00000586385.5:c.337_345delinsGGTGTCCAC ENSP00000465818.1:p.Gly113=
ENST00000591534.5:c.880_888delinsGGTGTCCAC ENSP00000467329.1:p.Gly294=
ENST00000591849.5:c.106_114delinsGGTGTCCAC ENSP00000465347.1:p.Gly36=
NM_007294.3:c.5407_5415delinsGGTGTCCAC , LRG_292t1:c.5407_5415delinsGGTGTCCAC NP_009225.1:p.Gly1803=
NM_007297.3:c.5266_5274delinsGGTGTCCAC NP_009228.2:p.Gly1756=
NM_007298.3:c.2095_2103delinsGGTGTCCAC NP_009229.2:p.Gly699=
NM_007299.3:c.2021_2029delinsGGTGTCCAC NP_009230.2:p.Gly674=
NM_007300.3:c.5470_5478delinsGGTGTCCAC NP_009231.2:p.Gly1824=
NR_027676.1:n.5543_5551delinsGGTGTCCAC
NM_007294.4:c.5407_5415delinsGGTGTCCAC MANE Select NP_009225.1:p.Gly1803=
NM_007297.4:c.5266_5274delinsGGTGTCCAC NP_009228.2:p.Gly1756=
NM_007299.4:c.2021_2029delinsGGTGTCCAC NP_009230.2:p.Gly674=
NM_007300.4:c.5470_5478delinsGGTGTCCAC NP_009231.2:p.Gly1824=
NR_027676.2:n.5584_5592delinsGGTGTCCAC