Canonical Allele Identifier: CA2809538782

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063036_43063039del , CM000679.2:g.43063036_43063039del	GRCh38
NC_000017.10:g.41215053_41215056del , CM000679.1:g.41215053_41215056del	GRCh37
NC_000017.9:g.38468579_38468582del	NCBI36
NG_005905.2:g.154945_154948del , LRG_292:g.154945_154948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5190+294_5190+297del	ENSP00000417241.2:n.5190+294_5190+297del
ENST00000470026.6:c.5193+294_5193+297del	ENSP00000419274.2:n.5193+294_5193+297del
ENST00000473961.6:c.5067+294_5067+297del	ENSP00000420201.2:n.5067+294_5067+297del
ENST00000476777.6:c.5187+294_5187+297del	ENSP00000417554.2:n.5187+294_5187+297del
ENST00000477152.6:c.5115+294_5115+297del	ENSP00000419988.2:n.5115+294_5115+297del
ENST00000478531.6:c.1881+294_1881+297del	ENSP00000420412.2:n.1881+294_1881+297del
ENST00000489037.2:c.5115+294_5115+297del	ENSP00000420781.2:n.5115+294_5115+297del
ENST00000493919.6:c.1743+294_1743+297del	ENSP00000418819.2:n.1743+294_1743+297del
ENST00000494123.6:c.5193+294_5193+297del	ENSP00000419103.2:n.5193+294_5193+297del
ENST00000497488.2:c.4305+294_4305+297del	ENSP00000418986.2:n.4305+294_4305+297del
ENST00000618469.2:c.5193+294_5193+297del	ENSP00000478114.2:n.5193+294_5193+297del
ENST00000634433.2:c.5070+294_5070+297del	ENSP00000489431.2:n.5070+294_5070+297del
ENST00000644379.2:c.5259+294_5259+297del	ENSP00000496570.2:n.5259+294_5259+297del
ENST00000644555.2:c.1743+294_1743+297del	ENSP00000494614.2:n.1743+294_1743+297del
ENST00000652672.2:c.5052+294_5052+297del	ENSP00000498906.2:n.5052+294_5052+297del
ENST00000484087.6:c.1755+294_1755+297del	ENSP00000419481.2:n.1755+294_1755+297del
ENST00000357654.9:c.5193+294_5193+297del MANE Select	ENSP00000350283.3:n.5193+294_5193+297del
ENST00000471181.7:c.5256+294_5256+297del	ENSP00000418960.2:n.5256+294_5256+297del
ENST00000644379.1:c.1580+294_1580+297del
ENST00000352993.7:c.1767+294_1767+297del	ENSP00000312236.5:n.1767+294_1767+297del
ENST00000357654.7:c.5193+294_5193+297del	ENSP00000350283.3:n.5193+294_5193+297del
ENST00000461221.5:c.*4976+294_*4976+297del	ENSP00000418548.1:n.*4976+294_*4976+297del
ENST00000468300.5:c.1881+294_1881+297del	ENSP00000417148.1:n.1881+294_1881+297del
ENST00000471181.6:c.5256+294_5256+297del	ENSP00000418960.2:n.5256+294_5256+297del
ENST00000491747.6:c.1881+294_1881+297del	ENSP00000420705.2:n.1881+294_1881+297del
ENST00000493795.5:c.5052+294_5052+297del	ENSP00000418775.1:n.5052+294_5052+297del
ENST00000586385.5:c.123+294_123+297del	ENSP00000465818.1:n.123+294_123+297del
ENST00000591534.5:c.666+294_666+297del	ENSP00000467329.1:n.666+294_666+297del
ENST00000591849.5:c.-98-12849_-98-12846del	ENSP00000465347.1:n.-98-12849_-98-12846del
NM_007294.3:c.5193+294_5193+297del , LRG_292t1:c.5193+294_5193+297del	NP_009225.1:n.5193+294_5193+297del
NM_007297.3:c.5052+294_5052+297del	NP_009228.2:n.5052+294_5052+297del
NM_007298.3:c.1881+294_1881+297del	NP_009229.2:n.1881+294_1881+297del
NM_007299.3:c.1881+294_1881+297del	NP_009230.2:n.1881+294_1881+297del
NM_007300.3:c.5256+294_5256+297del	NP_009231.2:n.5256+294_5256+297del
NR_027676.1:n.5329+294_5329+297del
NM_007294.4:c.5193+294_5193+297del MANE Select	NP_009225.1:n.5193+294_5193+297del
NM_007297.4:c.5052+294_5052+297del	NP_009228.2:n.5052+294_5052+297del
NM_007299.4:c.1881+294_1881+297del	NP_009230.2:n.1881+294_1881+297del
NM_007300.4:c.5256+294_5256+297del	NP_009231.2:n.5256+294_5256+297del
NR_027676.2:n.5370+294_5370+297del