Canonical Allele Identifier: CA2260782442

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091937_43091938delinsCA , CM000679.2:g.43091937_43091938delinsCA	GRCh38
NC_000017.10:g.41243954_41243955delinsCA , CM000679.1:g.41243954_41243955delinsCA	GRCh37
NC_000017.9:g.38497480_38497481delinsCA	NCBI36
NG_005905.2:g.126046_126047delinsTG , LRG_292:g.126046_126047delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3657_3658delinsTG
ENST00000461574.2:c.3593_3594delinsTG	ENSP00000417241.2:p.Leu1198=
ENST00000470026.6:c.3593_3594delinsTG	ENSP00000419274.2:p.Leu1198=
ENST00000473961.6:c.3467_3468delinsTG	ENSP00000420201.2:p.Leu1156=
ENST00000476777.6:c.3590_3591delinsTG	ENSP00000417554.2:p.Leu1197=
ENST00000477152.6:c.3515_3516delinsTG	ENSP00000419988.2:p.Leu1172=
ENST00000478531.6:c.785-906_785-905delinsTG	ENSP00000420412.2:n.785-906_785-905delinsTG
ENST00000489037.2:c.3515_3516delinsTG	ENSP00000420781.2:p.Leu1172=
ENST00000493919.6:c.647-906_647-905delinsTG	ENSP00000418819.2:n.647-906_647-905delinsTG
ENST00000494123.6:c.3593_3594delinsTG	ENSP00000419103.2:p.Leu1198=
ENST00000497488.2:c.2705_2706delinsTG	ENSP00000418986.2:p.Leu902=
ENST00000618469.2:c.3593_3594delinsTG	ENSP00000478114.2:p.Leu1198=
ENST00000634433.2:c.3470_3471delinsTG	ENSP00000489431.2:p.Leu1157=
ENST00000644379.2:c.3593_3594delinsTG	ENSP00000496570.2:p.Leu1198=
ENST00000644555.2:c.647-906_647-905delinsTG	ENSP00000494614.2:n.647-906_647-905delinsTG
ENST00000652672.2:c.3452_3453delinsTG	ENSP00000498906.2:p.Leu1151=
ENST00000484087.6:c.665-906_665-905delinsTG	ENSP00000419481.2:n.665-906_665-905delinsTG
ENST00000700182.1:c.707-906_707-905delinsTG	ENSP00000514849.1:n.707-906_707-905delinsTG
ENST00000357654.9:c.3593_3594delinsTG MANE Select	ENSP00000350283.3:p.Leu1198=
ENST00000471181.7:c.3593_3594delinsTG	ENSP00000418960.2:p.Leu1198=
ENST00000352993.7:c.671-906_671-905delinsTG	ENSP00000312236.5:n.671-906_671-905delinsTG
ENST00000354071.7:c.3593_3594delinsTG	ENSP00000326002.7:p.Leu1198=
ENST00000357654.7:c.3593_3594delinsTG	ENSP00000350283.3:p.Leu1198=
ENST00000461221.5:c.*3376_*3377delinsTG	ENSP00000418548.1:n.*3376_*3377delinsTG
ENST00000468300.5:c.788-906_788-905delinsTG	ENSP00000417148.1:n.788-906_788-905delinsTG
ENST00000471181.6:c.3593_3594delinsTG	ENSP00000418960.2:p.Leu1198=
ENST00000478531.5:c.785-906_785-905delinsTG	ENSP00000420412.1:n.785-906_785-905delinsTG
ENST00000484087.5:c.410-906_410-905delinsTG	ENSP00000419481.1:n.410-906_410-905delinsTG
ENST00000487825.5:c.413-906_413-905delinsTG	ENSP00000418212.1:n.413-906_413-905delinsTG
ENST00000491747.6:c.788-906_788-905delinsTG	ENSP00000420705.2:n.788-906_788-905delinsTG
ENST00000493795.5:c.3452_3453delinsTG	ENSP00000418775.1:p.Leu1151=
ENST00000493919.5:c.647-906_647-905delinsTG	ENSP00000418819.1:n.647-906_647-905delinsTG
ENST00000586385.5:c.5-27987_5-27986delinsTG	ENSP00000465818.1:n.5-27987_5-27986delinsTG
ENST00000591534.5:c.-43-17417_-43-17416delinsTG	ENSP00000467329.1:n.-43-17417_-43-17416delinsTG
ENST00000591849.5:c.-99+33333_-99+33334delinsTG	ENSP00000465347.1:n.-99+33333_-99+33334delinsTG
NM_007294.3:c.3593_3594delinsTG , LRG_292t1:c.3593_3594delinsTG	NP_009225.1:p.Leu1198=
NM_007297.3:c.3452_3453delinsTG	NP_009228.2:p.Leu1151=
NM_007298.3:c.788-906_788-905delinsTG	NP_009229.2:n.788-906_788-905delinsTG
NM_007299.3:c.788-906_788-905delinsTG	NP_009230.2:n.788-906_788-905delinsTG
NM_007300.3:c.3593_3594delinsTG	NP_009231.2:p.Leu1198=
NR_027676.1:n.3729_3730delinsTG
NM_007294.4:c.3593_3594delinsTG MANE Select	NP_009225.1:p.Leu1198=
NM_007297.4:c.3452_3453delinsTG	NP_009228.2:p.Leu1151=
NM_007299.4:c.788-906_788-905delinsTG	NP_009230.2:n.788-906_788-905delinsTG
NM_007300.4:c.3593_3594delinsTG	NP_009231.2:p.Leu1198=
NR_027676.2:n.3770_3771delinsTG