Canonical Allele Identifier: CA2260781837

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091272_43091273delinsCT , CM000679.2:g.43091272_43091273delinsCT	GRCh38
NC_000017.10:g.41243289_41243290delinsCT , CM000679.1:g.41243289_41243290delinsCT	GRCh37
NC_000017.9:g.38496815_38496816delinsCT	NCBI36
NG_005905.2:g.126711_126712delinsAG , LRG_292:g.126711_126712delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4322_4323delinsAG
ENST00000461574.2:c.4096+162_4096+163delinsAG	ENSP00000417241.2:n.4096+162_4096+163delinsAG
ENST00000470026.6:c.4096+162_4096+163delinsAG	ENSP00000419274.2:n.4096+162_4096+163delinsAG
ENST00000473961.6:c.3970+162_3970+163delinsAG	ENSP00000420201.2:n.3970+162_3970+163delinsAG
ENST00000476777.6:c.4093+162_4093+163delinsAG	ENSP00000417554.2:n.4093+162_4093+163delinsAG
ENST00000477152.6:c.4018+162_4018+163delinsAG	ENSP00000419988.2:n.4018+162_4018+163delinsAG
ENST00000478531.6:c.785-241_785-240delinsAG	ENSP00000420412.2:n.785-241_785-240delinsAG
ENST00000489037.2:c.4018+162_4018+163delinsAG	ENSP00000420781.2:n.4018+162_4018+163delinsAG
ENST00000493919.6:c.647-241_647-240delinsAG	ENSP00000418819.2:n.647-241_647-240delinsAG
ENST00000494123.6:c.4096+162_4096+163delinsAG	ENSP00000419103.2:n.4096+162_4096+163delinsAG
ENST00000497488.2:c.3208+162_3208+163delinsAG	ENSP00000418986.2:n.3208+162_3208+163delinsAG
ENST00000618469.2:c.4096+162_4096+163delinsAG	ENSP00000478114.2:n.4096+162_4096+163delinsAG
ENST00000634433.2:c.3973+162_3973+163delinsAG	ENSP00000489431.2:n.3973+162_3973+163delinsAG
ENST00000644379.2:c.4096+162_4096+163delinsAG	ENSP00000496570.2:n.4096+162_4096+163delinsAG
ENST00000644555.2:c.647-241_647-240delinsAG	ENSP00000494614.2:n.647-241_647-240delinsAG
ENST00000652672.2:c.3955+162_3955+163delinsAG	ENSP00000498906.2:n.3955+162_3955+163delinsAG
ENST00000484087.6:c.665-241_665-240delinsAG	ENSP00000419481.2:n.665-241_665-240delinsAG
ENST00000700182.1:c.707-241_707-240delinsAG	ENSP00000514849.1:n.707-241_707-240delinsAG
ENST00000357654.9:c.4096+162_4096+163delinsAG MANE Select	ENSP00000350283.3:n.4096+162_4096+163delinsAG
ENST00000471181.7:c.4096+162_4096+163delinsAG	ENSP00000418960.2:n.4096+162_4096+163delinsAG
ENST00000644379.1:c.417+162_417+163delinsAG
ENST00000352993.7:c.671-241_671-240delinsAG	ENSP00000312236.5:n.671-241_671-240delinsAG
ENST00000354071.7:c.*58_*59delinsAG	ENSP00000326002.7:n.*58_*59delinsAG
ENST00000357654.7:c.4096+162_4096+163delinsAG	ENSP00000350283.3:n.4096+162_4096+163delinsAG
ENST00000461221.5:c.*3879+162_*3879+163delinsAG	ENSP00000418548.1:n.*3879+162_*3879+163delinsAG
ENST00000461574.1:c.390+162_390+163delinsAG
ENST00000468300.5:c.788-241_788-240delinsAG	ENSP00000417148.1:n.788-241_788-240delinsAG
ENST00000471181.6:c.4096+162_4096+163delinsAG	ENSP00000418960.2:n.4096+162_4096+163delinsAG
ENST00000478531.5:c.785-241_785-240delinsAG	ENSP00000420412.1:n.785-241_785-240delinsAG
ENST00000484087.5:c.410-241_410-240delinsAG	ENSP00000419481.1:n.410-241_410-240delinsAG
ENST00000487825.5:c.413-241_413-240delinsAG	ENSP00000418212.1:n.413-241_413-240delinsAG
ENST00000491747.6:c.788-241_788-240delinsAG	ENSP00000420705.2:n.788-241_788-240delinsAG
ENST00000493795.5:c.3955+162_3955+163delinsAG	ENSP00000418775.1:n.3955+162_3955+163delinsAG
ENST00000493919.5:c.647-241_647-240delinsAG	ENSP00000418819.1:n.647-241_647-240delinsAG
ENST00000586385.5:c.5-27322_5-27321delinsAG	ENSP00000465818.1:n.5-27322_5-27321delinsAG
ENST00000591534.5:c.-43-16752_-43-16751delinsAG	ENSP00000467329.1:n.-43-16752_-43-16751delinsAG
ENST00000591849.5:c.-99+33998_-99+33999delinsAG	ENSP00000465347.1:n.-99+33998_-99+33999delinsAG
NM_007294.3:c.4096+162_4096+163delinsAG , LRG_292t1:c.4096+162_4096+163delinsAG	NP_009225.1:n.4096+162_4096+163delinsAG
NM_007297.3:c.3955+162_3955+163delinsAG	NP_009228.2:n.3955+162_3955+163delinsAG
NM_007298.3:c.788-241_788-240delinsAG	NP_009229.2:n.788-241_788-240delinsAG
NM_007299.3:c.788-241_788-240delinsAG	NP_009230.2:n.788-241_788-240delinsAG
NM_007300.3:c.4096+162_4096+163delinsAG	NP_009231.2:n.4096+162_4096+163delinsAG
NR_027676.1:n.4232+162_4232+163delinsAG
NM_007294.4:c.4096+162_4096+163delinsAG MANE Select	NP_009225.1:n.4096+162_4096+163delinsAG
NM_007297.4:c.3955+162_3955+163delinsAG	NP_009228.2:n.3955+162_3955+163delinsAG
NM_007299.4:c.788-241_788-240delinsAG	NP_009230.2:n.788-241_788-240delinsAG
NM_007300.4:c.4096+162_4096+163delinsAG	NP_009231.2:n.4096+162_4096+163delinsAG
NR_027676.2:n.4273+162_4273+163delinsAG