Canonical Allele Identifier: CA2260790296

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104076_43104081delinsAAAAAG , CM000679.2:g.43104076_43104081delinsAAAAAG	GRCh38
NC_000017.10:g.41256093_41256098delinsAAAAAG , CM000679.1:g.41256093_41256098delinsAAAAAG	GRCh37
NC_000017.9:g.38509619_38509624delinsAAAAAG	NCBI36
NG_005905.2:g.113903_113908delinsCTTTTT , LRG_292:g.113903_113908delinsCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.505+41_505+46delinsCTTTTT
ENST00000461574.2:c.441+41_441+46delinsCTTTTT	ENSP00000417241.2:n.441+41_441+46delinsCTTTTT
ENST00000470026.6:c.441+41_441+46delinsCTTTTT	ENSP00000419274.2:n.441+41_441+46delinsCTTTTT
ENST00000473961.6:c.441+41_441+46delinsCTTTTT	ENSP00000420201.2:n.441+41_441+46delinsCTTTTT
ENST00000476777.6:c.441+41_441+46delinsCTTTTT	ENSP00000417554.2:n.441+41_441+46delinsCTTTTT
ENST00000477152.6:c.363+41_363+46delinsCTTTTT	ENSP00000419988.2:n.363+41_363+46delinsCTTTTT
ENST00000478531.6:c.441+41_441+46delinsCTTTTT	ENSP00000420412.2:n.441+41_441+46delinsCTTTTT
ENST00000489037.2:c.363+41_363+46delinsCTTTTT	ENSP00000420781.2:n.363+41_363+46delinsCTTTTT
ENST00000493919.6:c.300+41_300+46delinsCTTTTT	ENSP00000418819.2:n.300+41_300+46delinsCTTTTT
ENST00000494123.6:c.441+41_441+46delinsCTTTTT	ENSP00000419103.2:n.441+41_441+46delinsCTTTTT
ENST00000497488.2:c.-218-9221_-218-9216delinsCTTTTT	ENSP00000418986.2:n.-218-9221_-218-9216delinsCTTTTT
ENST00000618469.2:c.441+41_441+46delinsCTTTTT	ENSP00000478114.2:n.441+41_441+46delinsCTTTTT
ENST00000634433.2:c.441+41_441+46delinsCTTTTT	ENSP00000489431.2:n.441+41_441+46delinsCTTTTT
ENST00000644379.2:c.441+41_441+46delinsCTTTTT	ENSP00000496570.2:n.441+41_441+46delinsCTTTTT
ENST00000644555.2:c.300+41_300+46delinsCTTTTT	ENSP00000494614.2:n.300+41_300+46delinsCTTTTT
ENST00000652672.2:c.300+41_300+46delinsCTTTTT	ENSP00000498906.2:n.300+41_300+46delinsCTTTTT
ENST00000484087.6:c.441+41_441+46delinsCTTTTT	ENSP00000419481.2:n.441+41_441+46delinsCTTTTT
ENST00000700182.1:c.363+41_363+46delinsCTTTTT	ENSP00000514849.1:n.363+41_363+46delinsCTTTTT
ENST00000700183.1:c.*355+41_*355+46delinsCTTTTT	ENSP00000514850.1:n.*355+41_*355+46delinsCTTTTT
ENST00000700184.1:n.684+41_684+46delinsCTTTTT
ENST00000357654.9:c.441+41_441+46delinsCTTTTT MANE Select	ENSP00000350283.3:n.441+41_441+46delinsCTTTTT
ENST00000471181.7:c.441+41_441+46delinsCTTTTT	ENSP00000418960.2:n.441+41_441+46delinsCTTTTT
ENST00000642945.1:c.*315+41_*315+46delinsCTTTTT	ENSP00000495897.1:n.*315+41_*315+46delinsCTTTTT
ENST00000652672.1:c.300+41_300+46delinsCTTTTT	ENSP00000498906.1:n.300+41_300+46delinsCTTTTT
ENST00000352993.7:c.441+41_441+46delinsCTTTTT	ENSP00000312236.5:n.441+41_441+46delinsCTTTTT
ENST00000354071.7:c.441+41_441+46delinsCTTTTT	ENSP00000326002.7:n.441+41_441+46delinsCTTTTT
ENST00000357654.7:c.441+41_441+46delinsCTTTTT	ENSP00000350283.3:n.441+41_441+46delinsCTTTTT
ENST00000461221.5:c.*227+41_*227+46delinsCTTTTT	ENSP00000418548.1:n.*227+41_*227+46delinsCTTTTT
ENST00000461798.5:c.*227+41_*227+46delinsCTTTTT	ENSP00000417988.1:n.*227+41_*227+46delinsCTTTTT
ENST00000468300.5:c.441+41_441+46delinsCTTTTT	ENSP00000417148.1:n.441+41_441+46delinsCTTTTT
ENST00000470026.5:c.441+41_441+46delinsCTTTTT	ENSP00000419274.1:n.441+41_441+46delinsCTTTTT
ENST00000471181.6:c.441+41_441+46delinsCTTTTT	ENSP00000418960.2:n.441+41_441+46delinsCTTTTT
ENST00000473961.5:c.164+41_164+46delinsCTTTTT
ENST00000476777.5:c.441+41_441+46delinsCTTTTT	ENSP00000417554.1:n.441+41_441+46delinsCTTTTT
ENST00000477152.5:c.363+41_363+46delinsCTTTTT	ENSP00000419988.1:n.363+41_363+46delinsCTTTTT
ENST00000478531.5:c.441+41_441+46delinsCTTTTT	ENSP00000420412.1:n.441+41_441+46delinsCTTTTT
ENST00000484087.5:c.189+41_189+46delinsCTTTTT	ENSP00000419481.1:n.189+41_189+46delinsCTTTTT
ENST00000487825.5:c.189+41_189+46delinsCTTTTT	ENSP00000418212.1:n.189+41_189+46delinsCTTTTT
ENST00000491747.6:c.441+41_441+46delinsCTTTTT	ENSP00000420705.2:n.441+41_441+46delinsCTTTTT
ENST00000492859.5:c.*377+41_*377+46delinsCTTTTT	ENSP00000420253.1:n.*377+41_*377+46delinsCTTTTT
ENST00000493795.5:c.300+41_300+46delinsCTTTTT	ENSP00000418775.1:n.300+41_300+46delinsCTTTTT
ENST00000493919.5:c.300+41_300+46delinsCTTTTT	ENSP00000418819.1:n.300+41_300+46delinsCTTTTT
ENST00000494123.5:c.441+41_441+46delinsCTTTTT	ENSP00000419103.1:n.441+41_441+46delinsCTTTTT
ENST00000497488.1:c.-218-9221_-218-9216delinsCTTTTT	ENSP00000418986.1:n.-218-9221_-218-9216delinsCTTTTT
ENST00000586385.5:c.4+21101_4+21106delinsCTTTTT	ENSP00000465818.1:n.4+21101_4+21106delinsCTTTTT
ENST00000591534.5:c.-44+21190_-44+21195delinsCTTTTT	ENSP00000467329.1:n.-44+21190_-44+21195delinsCTTTTT
ENST00000591849.5:c.-99+21190_-99+21195delinsCTTTTT	ENSP00000465347.1:n.-99+21190_-99+21195delinsCTTTTT
ENST00000634433.1:c.441+41_441+46delinsCTTTTT	ENSP00000489431.1:n.441+41_441+46delinsCTTTTT
NM_007294.3:c.441+41_441+46delinsCTTTTT , LRG_292t1:c.441+41_441+46delinsCTTTTT	NP_009225.1:n.441+41_441+46delinsCTTTTT
NM_007297.3:c.300+41_300+46delinsCTTTTT	NP_009228.2:n.300+41_300+46delinsCTTTTT
NM_007298.3:c.441+41_441+46delinsCTTTTT	NP_009229.2:n.441+41_441+46delinsCTTTTT
NM_007299.3:c.441+41_441+46delinsCTTTTT	NP_009230.2:n.441+41_441+46delinsCTTTTT
NM_007300.3:c.441+41_441+46delinsCTTTTT	NP_009231.2:n.441+41_441+46delinsCTTTTT
NR_027676.1:n.580+41_580+46delinsCTTTTT
NM_007294.4:c.441+41_441+46delinsCTTTTT MANE Select	NP_009225.1:n.441+41_441+46delinsCTTTTT
NM_007297.4:c.300+41_300+46delinsCTTTTT	NP_009228.2:n.300+41_300+46delinsCTTTTT
NM_007299.4:c.441+41_441+46delinsCTTTTT	NP_009230.2:n.441+41_441+46delinsCTTTTT
NM_007300.4:c.441+41_441+46delinsCTTTTT	NP_009231.2:n.441+41_441+46delinsCTTTTT
NR_027676.2:n.621+41_621+46delinsCTTTTT