Canonical Allele Identifier: CA2260769049

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063064_43063065delinsAT , CM000679.2:g.43063064_43063065delinsAT	GRCh38
NC_000017.10:g.41215081_41215082delinsAT , CM000679.1:g.41215081_41215082delinsAT	GRCh37
NC_000017.9:g.38468607_38468608delinsAT	NCBI36
NG_005905.2:g.154919_154920delinsAT , LRG_292:g.154919_154920delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5190+268_5190+269delinsAT	ENSP00000417241.2:n.5190+268_5190+269delinsAT
ENST00000470026.6:c.5193+268_5193+269delinsAT	ENSP00000419274.2:n.5193+268_5193+269delinsAT
ENST00000473961.6:c.5067+268_5067+269delinsAT	ENSP00000420201.2:n.5067+268_5067+269delinsAT
ENST00000476777.6:c.5187+268_5187+269delinsAT	ENSP00000417554.2:n.5187+268_5187+269delinsAT
ENST00000477152.6:c.5115+268_5115+269delinsAT	ENSP00000419988.2:n.5115+268_5115+269delinsAT
ENST00000478531.6:c.1881+268_1881+269delinsAT	ENSP00000420412.2:n.1881+268_1881+269delinsAT
ENST00000489037.2:c.5115+268_5115+269delinsAT	ENSP00000420781.2:n.5115+268_5115+269delinsAT
ENST00000493919.6:c.1743+268_1743+269delinsAT	ENSP00000418819.2:n.1743+268_1743+269delinsAT
ENST00000494123.6:c.5193+268_5193+269delinsAT	ENSP00000419103.2:n.5193+268_5193+269delinsAT
ENST00000497488.2:c.4305+268_4305+269delinsAT	ENSP00000418986.2:n.4305+268_4305+269delinsAT
ENST00000618469.2:c.5193+268_5193+269delinsAT	ENSP00000478114.2:n.5193+268_5193+269delinsAT
ENST00000634433.2:c.5070+268_5070+269delinsAT	ENSP00000489431.2:n.5070+268_5070+269delinsAT
ENST00000644379.2:c.5259+268_5259+269delinsAT	ENSP00000496570.2:n.5259+268_5259+269delinsAT
ENST00000644555.2:c.1743+268_1743+269delinsAT	ENSP00000494614.2:n.1743+268_1743+269delinsAT
ENST00000652672.2:c.5052+268_5052+269delinsAT	ENSP00000498906.2:n.5052+268_5052+269delinsAT
ENST00000484087.6:c.1755+268_1755+269delinsAT	ENSP00000419481.2:n.1755+268_1755+269delinsAT
ENST00000357654.9:c.5193+268_5193+269delinsAT MANE Select	ENSP00000350283.3:n.5193+268_5193+269delinsAT
ENST00000471181.7:c.5256+268_5256+269delinsAT	ENSP00000418960.2:n.5256+268_5256+269delinsAT
ENST00000644379.1:c.1580+268_1580+269delinsAT
ENST00000352993.7:c.1767+268_1767+269delinsAT	ENSP00000312236.5:n.1767+268_1767+269delinsAT
ENST00000357654.7:c.5193+268_5193+269delinsAT	ENSP00000350283.3:n.5193+268_5193+269delinsAT
ENST00000461221.5:c.*4976+268_*4976+269delinsAT	ENSP00000418548.1:n.*4976+268_*4976+269delinsAT
ENST00000468300.5:c.1881+268_1881+269delinsAT	ENSP00000417148.1:n.1881+268_1881+269delinsAT
ENST00000471181.6:c.5256+268_5256+269delinsAT	ENSP00000418960.2:n.5256+268_5256+269delinsAT
ENST00000491747.6:c.1881+268_1881+269delinsAT	ENSP00000420705.2:n.1881+268_1881+269delinsAT
ENST00000493795.5:c.5052+268_5052+269delinsAT	ENSP00000418775.1:n.5052+268_5052+269delinsAT
ENST00000586385.5:c.123+268_123+269delinsAT	ENSP00000465818.1:n.123+268_123+269delinsAT
ENST00000591534.5:c.666+268_666+269delinsAT	ENSP00000467329.1:n.666+268_666+269delinsAT
ENST00000591849.5:c.-98-12875_-98-12874delinsAT	ENSP00000465347.1:n.-98-12875_-98-12874delinsAT
NM_007294.3:c.5193+268_5193+269delinsAT , LRG_292t1:c.5193+268_5193+269delinsAT	NP_009225.1:n.5193+268_5193+269delinsAT
NM_007297.3:c.5052+268_5052+269delinsAT	NP_009228.2:n.5052+268_5052+269delinsAT
NM_007298.3:c.1881+268_1881+269delinsAT	NP_009229.2:n.1881+268_1881+269delinsAT
NM_007299.3:c.1881+268_1881+269delinsAT	NP_009230.2:n.1881+268_1881+269delinsAT
NM_007300.3:c.5256+268_5256+269delinsAT	NP_009231.2:n.5256+268_5256+269delinsAT
NR_027676.1:n.5329+268_5329+269delinsAT
NM_007294.4:c.5193+268_5193+269delinsAT MANE Select	NP_009225.1:n.5193+268_5193+269delinsAT
NM_007297.4:c.5052+268_5052+269delinsAT	NP_009228.2:n.5052+268_5052+269delinsAT
NM_007299.4:c.1881+268_1881+269delinsAT	NP_009230.2:n.1881+268_1881+269delinsAT
NM_007300.4:c.5256+268_5256+269delinsAT	NP_009231.2:n.5256+268_5256+269delinsAT
NR_027676.2:n.5370+268_5370+269delinsAT