Canonical Allele Identifier: CA2260782253

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091765_43091766delinsTG , CM000679.2:g.43091765_43091766delinsTG	GRCh38
NC_000017.10:g.41243782_41243783delinsTG , CM000679.1:g.41243782_41243783delinsTG	GRCh37
NC_000017.9:g.38497308_38497309delinsTG	NCBI36
NG_005905.2:g.126218_126219delinsCA , LRG_292:g.126218_126219delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3829_3830delinsCA
ENST00000461574.2:c.3765_3766delinsCA	ENSP00000417241.2:p.Asn1255=
ENST00000470026.6:c.3765_3766delinsCA	ENSP00000419274.2:p.Asn1255=
ENST00000473961.6:c.3639_3640delinsCA	ENSP00000420201.2:p.Asn1213=
ENST00000476777.6:c.3762_3763delinsCA	ENSP00000417554.2:p.Asn1254=
ENST00000477152.6:c.3687_3688delinsCA	ENSP00000419988.2:p.Asn1229=
ENST00000478531.6:c.785-734_785-733delinsCA	ENSP00000420412.2:n.785-734_785-733delins...
ENST00000489037.2:c.3687_3688delinsCA	ENSP00000420781.2:p.Asn1229=
ENST00000493919.6:c.647-734_647-733delinsCA	ENSP00000418819.2:n.647-734_647-733delins...
ENST00000494123.6:c.3765_3766delinsCA	ENSP00000419103.2:p.Asn1255=
ENST00000497488.2:c.2877_2878delinsCA	ENSP00000418986.2:p.Asn959=
ENST00000618469.2:c.3765_3766delinsCA	ENSP00000478114.2:p.Asn1255=
ENST00000634433.2:c.3642_3643delinsCA	ENSP00000489431.2:p.Asn1214=
ENST00000644379.2:c.3765_3766delinsCA	ENSP00000496570.2:p.Asn1255=
ENST00000644555.2:c.647-734_647-733delinsCA	ENSP00000494614.2:n.647-734_647-733delins...
ENST00000652672.2:c.3624_3625delinsCA	ENSP00000498906.2:p.Asn1208=
ENST00000484087.6:c.665-734_665-733delinsCA	ENSP00000419481.2:n.665-734_665-733delins...
ENST00000700182.1:c.707-734_707-733delinsCA	ENSP00000514849.1:n.707-734_707-733delins...
ENST00000357654.9:c.3765_3766delinsCA MANE Select	ENSP00000350283.3:p.Asn1255=
ENST00000471181.7:c.3765_3766delinsCA	ENSP00000418960.2:p.Asn1255=
ENST00000644379.1:c.86_87delinsCA
ENST00000352993.7:c.671-734_671-733delinsCA	ENSP00000312236.5:n.671-734_671-733delins...
ENST00000354071.7:c.3765_3766delinsCA	ENSP00000326002.7:p.Asn1255=
ENST00000357654.7:c.3765_3766delinsCA	ENSP00000350283.3:p.Asn1255=
ENST00000461221.5:c.*3548_*3549delinsCA	ENSP00000418548.1:n.*3548_*3549delinsCA
ENST00000461574.1:c.59_60delinsCA
ENST00000468300.5:c.788-734_788-733delinsCA	ENSP00000417148.1:n.788-734_788-733delins...
ENST00000471181.6:c.3765_3766delinsCA	ENSP00000418960.2:p.Asn1255=
ENST00000478531.5:c.785-734_785-733delinsCA	ENSP00000420412.1:n.785-734_785-733delins...
ENST00000484087.5:c.410-734_410-733delinsCA	ENSP00000419481.1:n.410-734_410-733delins...
ENST00000487825.5:c.413-734_413-733delinsCA	ENSP00000418212.1:n.413-734_413-733delins...
ENST00000491747.6:c.788-734_788-733delinsCA	ENSP00000420705.2:n.788-734_788-733delins...
ENST00000493795.5:c.3624_3625delinsCA	ENSP00000418775.1:p.Asn1208=
ENST00000493919.5:c.647-734_647-733delinsCA	ENSP00000418819.1:n.647-734_647-733delins...
ENST00000586385.5:c.5-27815_5-27814delinsCA	ENSP00000465818.1:n.5-27815_5-27814delins...
ENST00000591534.5:c.-43-17245_-43-17244delinsCA	ENSP00000467329.1:n.-43-17245_-43-17244de...
ENST00000591849.5:c.-99+33505_-99+33506delinsCA	ENSP00000465347.1:n.-99+33505_-99+33506de...
NM_007294.3:c.3765_3766delinsCA , LRG_292t1:c.3765_3766delinsCA	NP_009225.1:p.Asn1255=
NM_007297.3:c.3624_3625delinsCA	NP_009228.2:p.Asn1208=
NM_007298.3:c.788-734_788-733delinsCA	NP_009229.2:n.788-734_788-733delinsCA
NM_007299.3:c.788-734_788-733delinsCA	NP_009230.2:n.788-734_788-733delinsCA
NM_007300.3:c.3765_3766delinsCA	NP_009231.2:p.Asn1255=
NR_027676.1:n.3901_3902delinsCA
NM_007294.4:c.3765_3766delinsCA MANE Select	NP_009225.1:p.Asn1255=
NM_007297.4:c.3624_3625delinsCA	NP_009228.2:p.Asn1208=
NM_007299.4:c.788-734_788-733delinsCA	NP_009230.2:n.788-734_788-733delinsCA
NM_007300.4:c.3765_3766delinsCA	NP_009231.2:p.Asn1255=
NR_027676.2:n.3942_3943delinsCA