Canonical Allele Identifier: CA2260782034

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091556_43091559delinsCCTC , CM000679.2:g.43091556_43091559delinsCCTC	GRCh38
NC_000017.10:g.41243573_41243576delinsCCTC , CM000679.1:g.41243573_41243576delinsCCTC	GRCh37
NC_000017.9:g.38497099_38497102delinsCCTC	NCBI36
NG_005905.2:g.126425_126428delinsGAGG , LRG_292:g.126425_126428delinsGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4036_4039delinsGAGG
ENST00000461574.2:c.3972_3975delinsGAGG	ENSP00000417241.2:p.Met1324=
ENST00000470026.6:c.3972_3975delinsGAGG	ENSP00000419274.2:p.Met1324=
ENST00000473961.6:c.3846_3849delinsGAGG	ENSP00000420201.2:p.Met1282=
ENST00000476777.6:c.3969_3972delinsGAGG	ENSP00000417554.2:p.Met1323=
ENST00000477152.6:c.3894_3897delinsGAGG	ENSP00000419988.2:p.Met1298=
ENST00000478531.6:c.785-527_785-524delinsGAGG	ENSP00000420412.2:n.785-527_785-524delinsGAGG
ENST00000489037.2:c.3894_3897delinsGAGG	ENSP00000420781.2:p.Met1298=
ENST00000493919.6:c.647-527_647-524delinsGAGG	ENSP00000418819.2:n.647-527_647-524delinsGAGG
ENST00000494123.6:c.3972_3975delinsGAGG	ENSP00000419103.2:p.Met1324=
ENST00000497488.2:c.3084_3087delinsGAGG	ENSP00000418986.2:p.Met1028=
ENST00000618469.2:c.3972_3975delinsGAGG	ENSP00000478114.2:p.Met1324=
ENST00000634433.2:c.3849_3852delinsGAGG	ENSP00000489431.2:p.Met1283=
ENST00000644379.2:c.3972_3975delinsGAGG	ENSP00000496570.2:p.Met1324=
ENST00000644555.2:c.647-527_647-524delinsGAGG	ENSP00000494614.2:n.647-527_647-524delinsGAGG
ENST00000652672.2:c.3831_3834delinsGAGG	ENSP00000498906.2:p.Met1277=
ENST00000484087.6:c.665-527_665-524delinsGAGG	ENSP00000419481.2:n.665-527_665-524delinsGAGG
ENST00000700182.1:c.707-527_707-524delinsGAGG	ENSP00000514849.1:n.707-527_707-524delinsGAGG
ENST00000357654.9:c.3972_3975delinsGAGG MANE Select	ENSP00000350283.3:p.Met1324=
ENST00000471181.7:c.3972_3975delinsGAGG	ENSP00000418960.2:p.Met1324=
ENST00000644379.1:c.293_296delinsGAGG
ENST00000352993.7:c.671-527_671-524delinsGAGG	ENSP00000312236.5:n.671-527_671-524delinsGAGG
ENST00000354071.7:c.3972_3975delinsGAGG	ENSP00000326002.7:p.Met1324=
ENST00000357654.7:c.3972_3975delinsGAGG	ENSP00000350283.3:p.Met1324=
ENST00000461221.5:c.*3755_*3758delinsGAGG	ENSP00000418548.1:n.*3755_*3758delinsGAGG
ENST00000461574.1:c.266_269delinsGAGG
ENST00000468300.5:c.788-527_788-524delinsGAGG	ENSP00000417148.1:n.788-527_788-524delinsGAGG
ENST00000471181.6:c.3972_3975delinsGAGG	ENSP00000418960.2:p.Met1324=
ENST00000478531.5:c.785-527_785-524delinsGAGG	ENSP00000420412.1:n.785-527_785-524delinsGAGG
ENST00000484087.5:c.410-527_410-524delinsGAGG	ENSP00000419481.1:n.410-527_410-524delinsGAGG
ENST00000487825.5:c.413-527_413-524delinsGAGG	ENSP00000418212.1:n.413-527_413-524delinsGAGG
ENST00000491747.6:c.788-527_788-524delinsGAGG	ENSP00000420705.2:n.788-527_788-524delinsGAGG
ENST00000493795.5:c.3831_3834delinsGAGG	ENSP00000418775.1:p.Met1277=
ENST00000493919.5:c.647-527_647-524delinsGAGG	ENSP00000418819.1:n.647-527_647-524delinsGAGG
ENST00000586385.5:c.5-27608_5-27605delinsGAGG	ENSP00000465818.1:n.5-27608_5-27605delinsGAGG
ENST00000591534.5:c.-43-17038_-43-17035delinsGAGG	ENSP00000467329.1:n.-43-17038_-43-17035delinsGAGG
ENST00000591849.5:c.-99+33712_-99+33715delinsGAGG	ENSP00000465347.1:n.-99+33712_-99+33715delinsGAGG
NM_007294.3:c.3972_3975delinsGAGG , LRG_292t1:c.3972_3975delinsGAGG	NP_009225.1:p.Met1324=
NM_007297.3:c.3831_3834delinsGAGG	NP_009228.2:p.Met1277=
NM_007298.3:c.788-527_788-524delinsGAGG	NP_009229.2:n.788-527_788-524delinsGAGG
NM_007299.3:c.788-527_788-524delinsGAGG	NP_009230.2:n.788-527_788-524delinsGAGG
NM_007300.3:c.3972_3975delinsGAGG	NP_009231.2:p.Met1324=
NR_027676.1:n.4108_4111delinsGAGG
NM_007294.4:c.3972_3975delinsGAGG MANE Select	NP_009225.1:p.Met1324=
NM_007297.4:c.3831_3834delinsGAGG	NP_009228.2:p.Met1277=
NM_007299.4:c.788-527_788-524delinsGAGG	NP_009230.2:n.788-527_788-524delinsGAGG
NM_007300.4:c.3972_3975delinsGAGG	NP_009231.2:p.Met1324=
NR_027676.2:n.4149_4152delinsGAGG