Canonical Allele Identifier: CA2260782325

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091820_43091821delinsTA , CM000679.2:g.43091820_43091821delinsTA	GRCh38
NC_000017.10:g.41243837_41243838delinsTA , CM000679.1:g.41243837_41243838delinsTA	GRCh37
NC_000017.9:g.38497363_38497364delinsTA	NCBI36
NG_005905.2:g.126163_126164delinsTA , LRG_292:g.126163_126164delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3774_3775delinsTA
ENST00000461574.2:c.3710_3711delinsTA	ENSP00000417241.2:p.Ile1237=
ENST00000470026.6:c.3710_3711delinsTA	ENSP00000419274.2:p.Ile1237=
ENST00000473961.6:c.3584_3585delinsTA	ENSP00000420201.2:p.Ile1195=
ENST00000476777.6:c.3707_3708delinsTA	ENSP00000417554.2:p.Ile1236=
ENST00000477152.6:c.3632_3633delinsTA	ENSP00000419988.2:p.Ile1211=
ENST00000478531.6:c.785-789_785-788delinsTA	ENSP00000420412.2:n.785-789_785-788delinsTA
ENST00000489037.2:c.3632_3633delinsTA	ENSP00000420781.2:p.Ile1211=
ENST00000493919.6:c.647-789_647-788delinsTA	ENSP00000418819.2:n.647-789_647-788delinsTA
ENST00000494123.6:c.3710_3711delinsTA	ENSP00000419103.2:p.Ile1237=
ENST00000497488.2:c.2822_2823delinsTA	ENSP00000418986.2:p.Ile941=
ENST00000618469.2:c.3710_3711delinsTA	ENSP00000478114.2:p.Ile1237=
ENST00000634433.2:c.3587_3588delinsTA	ENSP00000489431.2:p.Ile1196=
ENST00000644379.2:c.3710_3711delinsTA	ENSP00000496570.2:p.Ile1237=
ENST00000644555.2:c.647-789_647-788delinsTA	ENSP00000494614.2:n.647-789_647-788delinsTA
ENST00000652672.2:c.3569_3570delinsTA	ENSP00000498906.2:p.Ile1190=
ENST00000484087.6:c.665-789_665-788delinsTA	ENSP00000419481.2:n.665-789_665-788delinsTA
ENST00000700182.1:c.707-789_707-788delinsTA	ENSP00000514849.1:n.707-789_707-788delinsTA
ENST00000357654.9:c.3710_3711delinsTA MANE Select	ENSP00000350283.3:p.Ile1237=
ENST00000471181.7:c.3710_3711delinsTA	ENSP00000418960.2:p.Ile1237=
ENST00000644379.1:c.31_32delinsTA
ENST00000352993.7:c.671-789_671-788delinsTA	ENSP00000312236.5:n.671-789_671-788delinsTA
ENST00000354071.7:c.3710_3711delinsTA	ENSP00000326002.7:p.Ile1237=
ENST00000357654.7:c.3710_3711delinsTA	ENSP00000350283.3:p.Ile1237=
ENST00000461221.5:c.*3493_*3494delinsTA	ENSP00000418548.1:n.*3493_*3494delinsTA
ENST00000461574.1:c.4_5delinsTA
ENST00000468300.5:c.788-789_788-788delinsTA	ENSP00000417148.1:n.788-789_788-788delinsTA
ENST00000471181.6:c.3710_3711delinsTA	ENSP00000418960.2:p.Ile1237=
ENST00000478531.5:c.785-789_785-788delinsTA	ENSP00000420412.1:n.785-789_785-788delinsTA
ENST00000484087.5:c.410-789_410-788delinsTA	ENSP00000419481.1:n.410-789_410-788delinsTA
ENST00000487825.5:c.413-789_413-788delinsTA	ENSP00000418212.1:n.413-789_413-788delinsTA
ENST00000491747.6:c.788-789_788-788delinsTA	ENSP00000420705.2:n.788-789_788-788delinsTA
ENST00000493795.5:c.3569_3570delinsTA	ENSP00000418775.1:p.Ile1190=
ENST00000493919.5:c.647-789_647-788delinsTA	ENSP00000418819.1:n.647-789_647-788delinsTA
ENST00000586385.5:c.5-27870_5-27869delinsTA	ENSP00000465818.1:n.5-27870_5-27869delinsTA
ENST00000591534.5:c.-43-17300_-43-17299delinsTA	ENSP00000467329.1:n.-43-17300_-43-17299delinsTA
ENST00000591849.5:c.-99+33450_-99+33451delinsTA	ENSP00000465347.1:n.-99+33450_-99+33451delinsTA
NM_007294.3:c.3710_3711delinsTA , LRG_292t1:c.3710_3711delinsTA	NP_009225.1:p.Ile1237=
NM_007297.3:c.3569_3570delinsTA	NP_009228.2:p.Ile1190=
NM_007298.3:c.788-789_788-788delinsTA	NP_009229.2:n.788-789_788-788delinsTA
NM_007299.3:c.788-789_788-788delinsTA	NP_009230.2:n.788-789_788-788delinsTA
NM_007300.3:c.3710_3711delinsTA	NP_009231.2:p.Ile1237=
NR_027676.1:n.3846_3847delinsTA
NM_007294.4:c.3710_3711delinsTA MANE Select	NP_009225.1:p.Ile1237=
NM_007297.4:c.3569_3570delinsTA	NP_009228.2:p.Ile1190=
NM_007299.4:c.788-789_788-788delinsTA	NP_009230.2:n.788-789_788-788delinsTA
NM_007300.4:c.3710_3711delinsTA	NP_009231.2:p.Ile1237=
NR_027676.2:n.3887_3888delinsTA