Canonical Allele Identifier: CA2260774425

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074337_43074338delinsCT , CM000679.2:g.43074337_43074338delinsCT	GRCh38
NC_000017.10:g.41226354_41226355delinsCT , CM000679.1:g.41226354_41226355delinsCT	GRCh37
NC_000017.9:g.38479880_38479881delinsCT	NCBI36
NG_005905.2:g.143646_143647delinsAG , LRG_292:g.143646_143647delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4665_4666delinsAG	ENSP00000417241.2:p.Gln1555=
ENST00000470026.6:c.4668_4669delinsAG	ENSP00000419274.2:p.Gln1556=
ENST00000473961.6:c.4542_4543delinsAG	ENSP00000420201.2:p.Gln1514=
ENST00000476777.6:c.4662_4663delinsAG	ENSP00000417554.2:p.Gln1554=
ENST00000477152.6:c.4590_4591delinsAG	ENSP00000419988.2:p.Gln1530=
ENST00000478531.6:c.1356_1357delinsAG	ENSP00000420412.2:p.Gln452=
ENST00000489037.2:c.4590_4591delinsAG	ENSP00000420781.2:p.Gln1530=
ENST00000493919.6:c.1218_1219delinsAG	ENSP00000418819.2:p.Gln406=
ENST00000494123.6:c.4668_4669delinsAG	ENSP00000419103.2:p.Gln1556=
ENST00000497488.2:c.3780_3781delinsAG	ENSP00000418986.2:p.Gln1260=
ENST00000618469.2:c.4668_4669delinsAG	ENSP00000478114.2:p.Gln1556=
ENST00000634433.2:c.4545_4546delinsAG	ENSP00000489431.2:p.Gln1515=
ENST00000644379.2:c.4734_4735delinsAG	ENSP00000496570.2:p.Gln1578=
ENST00000644555.2:c.1218_1219delinsAG	ENSP00000494614.2:p.Gln406=
ENST00000652672.2:c.4527_4528delinsAG	ENSP00000498906.2:p.Gln1509=
ENST00000484087.6:c.1230_1231delinsAG	ENSP00000419481.2:p.Gln410=
ENST00000700182.1:c.1275_1276delinsAG	ENSP00000514849.1:p.Gln425=
ENST00000357654.9:c.4668_4669delinsAG MANE Select	ENSP00000350283.3:p.Gln1556=
ENST00000471181.7:c.4731_4732delinsAG	ENSP00000418960.2:p.Gln1577=
ENST00000644379.1:c.1055_1056delinsAG
ENST00000352993.7:c.1242_1243delinsAG	ENSP00000312236.5:p.Gln414=
ENST00000357654.7:c.4668_4669delinsAG	ENSP00000350283.3:p.Gln1556=
ENST00000461221.5:c.*4451_*4452delinsAG	ENSP00000418548.1:n.*4451_*4452delinsAG
ENST00000468300.5:c.1356_1357delinsAG	ENSP00000417148.1:p.Gln452=
ENST00000471181.6:c.4731_4732delinsAG	ENSP00000418960.2:p.Gln1577=
ENST00000478531.5:c.1356_1357delinsAG	ENSP00000420412.1:p.Gln452=
ENST00000484087.5:c.981_982delinsAG	ENSP00000419481.1:p.Gln327=
ENST00000491747.6:c.1356_1357delinsAG	ENSP00000420705.2:p.Gln452=
ENST00000493795.5:c.4527_4528delinsAG	ENSP00000418775.1:p.Gln1509=
ENST00000493919.5:c.1218_1219delinsAG	ENSP00000418819.1:p.Gln406=
ENST00000586385.5:c.5-10387_5-10386delinsAG	ENSP00000465818.1:n.5-10387_5-10386delinsAG
ENST00000591534.5:c.141_142delinsAG	ENSP00000467329.1:p.Gln47=
ENST00000591849.5:c.-98-24148_-98-24147delinsAG	ENSP00000465347.1:n.-98-24148_-98-24147delinsAG
NM_007294.3:c.4668_4669delinsAG , LRG_292t1:c.4668_4669delinsAG	NP_009225.1:p.Gln1556=
NM_007297.3:c.4527_4528delinsAG	NP_009228.2:p.Gln1509=
NM_007298.3:c.1356_1357delinsAG	NP_009229.2:p.Gln452=
NM_007299.3:c.1356_1357delinsAG	NP_009230.2:p.Gln452=
NM_007300.3:c.4731_4732delinsAG	NP_009231.2:p.Gln1577=
NR_027676.1:n.4804_4805delinsAG
NM_007294.4:c.4668_4669delinsAG MANE Select	NP_009225.1:p.Gln1556=
NM_007297.4:c.4527_4528delinsAG	NP_009228.2:p.Gln1509=
NM_007299.4:c.1356_1357delinsAG	NP_009230.2:p.Gln452=
NM_007300.4:c.4731_4732delinsAG	NP_009231.2:p.Gln1577=
NR_027676.2:n.4845_4846delinsAG