Canonical Allele Identifier: CA3050533197

Gene: BRCA1

Linked Data - Expert Curation

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091691_43091692delinsCT , CM000679.2:g.43091691_43091692delinsCT	GRCh38
NC_000017.10:g.41243708_41243709delinsCT , CM000679.1:g.41243708_41243709delinsCT	GRCh37
NC_000017.9:g.38497234_38497235delinsCT	NCBI36
NG_005905.2:g.126292_126293delinsAG , LRG_292:g.126292_126293delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3903_3904delinsAG
ENST00000461574.2:c.3839_3840delinsAG	ENSP00000417241.2:p.Ser1280Ter
ENST00000470026.6:c.3839_3840delinsAG	ENSP00000419274.2:p.Ser1280Ter
ENST00000473961.6:c.3713_3714delinsAG	ENSP00000420201.2:p.Ser1238Ter
ENST00000476777.6:c.3836_3837delinsAG	ENSP00000417554.2:p.Ser1279Ter
ENST00000477152.6:c.3761_3762delinsAG	ENSP00000419988.2:p.Ser1254Ter
ENST00000478531.6:c.785-660_785-659delinsAG	ENSP00000420412.2:n.785-660_785-659delinsAG
ENST00000489037.2:c.3761_3762delinsAG	ENSP00000420781.2:p.Ser1254Ter
ENST00000493919.6:c.647-660_647-659delinsAG	ENSP00000418819.2:n.647-660_647-659delinsAG
ENST00000494123.6:c.3839_3840delinsAG	ENSP00000419103.2:p.Ser1280Ter
ENST00000497488.2:c.2951_2952delinsAG	ENSP00000418986.2:p.Ser984Ter
ENST00000618469.2:c.3839_3840delinsAG	ENSP00000478114.2:p.Ser1280Ter
ENST00000634433.2:c.3716_3717delinsAG	ENSP00000489431.2:p.Ser1239Ter
ENST00000644379.2:c.3839_3840delinsAG	ENSP00000496570.2:p.Ser1280Ter
ENST00000644555.2:c.647-660_647-659delinsAG	ENSP00000494614.2:n.647-660_647-659delinsAG
ENST00000652672.2:c.3698_3699delinsAG	ENSP00000498906.2:p.Ser1233Ter
ENST00000484087.6:c.665-660_665-659delinsAG	ENSP00000419481.2:n.665-660_665-659delinsAG
ENST00000700182.1:c.707-660_707-659delinsAG	ENSP00000514849.1:n.707-660_707-659delinsAG
ENST00000357654.9:c.3839_3840delinsAG MANE Select	ENSP00000350283.3:p.Ser1280Ter
ENST00000471181.7:c.3839_3840delinsAG	ENSP00000418960.2:p.Ser1280Ter
ENST00000644379.1:c.160_161delinsAG
ENST00000352993.7:c.671-660_671-659delinsAG	ENSP00000312236.5:n.671-660_671-659delinsAG
ENST00000354071.7:c.3839_3840delinsAG	ENSP00000326002.7:p.Ser1280Ter
ENST00000357654.7:c.3839_3840delinsAG	ENSP00000350283.3:p.Ser1280Ter
ENST00000461221.5:c.*3622_*3623delinsAG	ENSP00000418548.1:n.*3622_*3623delinsAG
ENST00000461574.1:c.133_134delinsAG
ENST00000468300.5:c.788-660_788-659delinsAG	ENSP00000417148.1:n.788-660_788-659delinsAG
ENST00000471181.6:c.3839_3840delinsAG	ENSP00000418960.2:p.Ser1280Ter
ENST00000478531.5:c.785-660_785-659delinsAG	ENSP00000420412.1:n.785-660_785-659delinsAG
ENST00000484087.5:c.410-660_410-659delinsAG	ENSP00000419481.1:n.410-660_410-659delinsAG
ENST00000487825.5:c.413-660_413-659delinsAG	ENSP00000418212.1:n.413-660_413-659delinsAG
ENST00000491747.6:c.788-660_788-659delinsAG	ENSP00000420705.2:n.788-660_788-659delinsAG
ENST00000493795.5:c.3698_3699delinsAG	ENSP00000418775.1:p.Ser1233Ter
ENST00000493919.5:c.647-660_647-659delinsAG	ENSP00000418819.1:n.647-660_647-659delinsAG
ENST00000586385.5:c.5-27741_5-27740delinsAG	ENSP00000465818.1:n.5-27741_5-27740delinsAG
ENST00000591534.5:c.-43-17171_-43-17170delinsAG	ENSP00000467329.1:n.-43-17171_-43-17170delinsAG
ENST00000591849.5:c.-99+33579_-99+33580delinsAG	ENSP00000465347.1:n.-99+33579_-99+33580delinsAG
NM_007294.3:c.3839_3840delinsAG , LRG_292t1:c.3839_3840delinsAG	NP_009225.1:p.Ser1280Ter
NM_007297.3:c.3698_3699delinsAG	NP_009228.2:p.Ser1233Ter
NM_007298.3:c.788-660_788-659delinsAG	NP_009229.2:n.788-660_788-659delinsAG
NM_007299.3:c.788-660_788-659delinsAG	NP_009230.2:n.788-660_788-659delinsAG
NM_007300.3:c.3839_3840delinsAG	NP_009231.2:p.Ser1280Ter
NR_027676.1:n.3975_3976delinsAG
NM_007294.4:c.3839_3840delinsAG MANE Select	NP_009225.1:p.Ser1280Ter
NM_007297.4:c.3698_3699delinsAG	NP_009228.2:p.Ser1233Ter
NM_007299.4:c.788-660_788-659delinsAG	NP_009230.2:n.788-660_788-659delinsAG
NM_007300.4:c.3839_3840delinsAG	NP_009231.2:p.Ser1280Ter
NR_027676.2:n.4016_4017delinsAG