Canonical Allele Identifier: CA2260778065

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082546_43082547delinsTA , CM000679.2:g.43082546_43082547delinsTA	GRCh38
NC_000017.10:g.41234563_41234564delinsTA , CM000679.1:g.41234563_41234564delinsTA	GRCh37
NC_000017.9:g.38488089_38488090delinsTA	NCBI36
NG_005905.2:g.135437_135438delinsTA , LRG_292:g.135437_135438delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4214_4215delinsTA	ENSP00000417241.2:p.Ile1405=
ENST00000470026.6:c.4214_4215delinsTA	ENSP00000419274.2:p.Ile1405=
ENST00000473961.6:c.4088_4089delinsTA	ENSP00000420201.2:p.Ile1363=
ENST00000476777.6:c.4208_4209delinsTA	ENSP00000417554.2:p.Ile1403=
ENST00000477152.6:c.4136_4137delinsTA	ENSP00000419988.2:p.Ile1379=
ENST00000478531.6:c.902_903delinsTA	ENSP00000420412.2:p.Ile301=
ENST00000489037.2:c.4136_4137delinsTA	ENSP00000420781.2:p.Ile1379=
ENST00000493919.6:c.764_765delinsTA	ENSP00000418819.2:p.Ile255=
ENST00000494123.6:c.4214_4215delinsTA	ENSP00000419103.2:p.Ile1405=
ENST00000497488.2:c.3326_3327delinsTA	ENSP00000418986.2:p.Ile1109=
ENST00000618469.2:c.4214_4215delinsTA	ENSP00000478114.2:p.Ile1405=
ENST00000634433.2:c.4091_4092delinsTA	ENSP00000489431.2:p.Ile1364=
ENST00000644379.2:c.4214_4215delinsTA	ENSP00000496570.2:p.Ile1405=
ENST00000644555.2:c.764_765delinsTA	ENSP00000494614.2:p.Ile255=
ENST00000652672.2:c.4073_4074delinsTA	ENSP00000498906.2:p.Ile1358=
ENST00000484087.6:c.779_780delinsTA	ENSP00000419481.2:p.Ile260=
ENST00000700182.1:c.824_825delinsTA	ENSP00000514849.1:p.Ile275=
ENST00000357654.9:c.4214_4215delinsTA MANE Select	ENSP00000350283.3:p.Ile1405=
ENST00000471181.7:c.4214_4215delinsTA	ENSP00000418960.2:p.Ile1405=
ENST00000644379.1:c.535_536delinsTA
ENST00000352993.7:c.788_789delinsTA	ENSP00000312236.5:p.Ile263=
ENST00000357654.7:c.4214_4215delinsTA	ENSP00000350283.3:p.Ile1405=
ENST00000461221.5:c.*3997_*3998delinsTA	ENSP00000418548.1:n.*3997_*3998delinsTA
ENST00000461574.1:c.508_509delinsTA
ENST00000468300.5:c.905_906delinsTA	ENSP00000417148.1:p.Ile302=
ENST00000471181.6:c.4214_4215delinsTA	ENSP00000418960.2:p.Ile1405=
ENST00000478531.5:c.902_903delinsTA	ENSP00000420412.1:p.Ile301=
ENST00000484087.5:c.527_528delinsTA	ENSP00000419481.1:p.Ile176=
ENST00000487825.5:c.530_531delinsTA	ENSP00000418212.1:p.Ile177=
ENST00000491747.6:c.905_906delinsTA	ENSP00000420705.2:p.Ile302=
ENST00000493795.5:c.4073_4074delinsTA	ENSP00000418775.1:p.Ile1358=
ENST00000493919.5:c.764_765delinsTA	ENSP00000418819.1:p.Ile255=
ENST00000586385.5:c.5-18596_5-18595delinsTA	ENSP00000465818.1:n.5-18596_5-18595delinsTA
ENST00000591534.5:c.-43-8026_-43-8025delinsTA	ENSP00000467329.1:n.-43-8026_-43-8025delinsTA
ENST00000591849.5:c.-98-32357_-98-32356delinsTA	ENSP00000465347.1:n.-98-32357_-98-32356delinsTA
ENST00000621897.1:n.108_109delinsTA
NM_007294.3:c.4214_4215delinsTA , LRG_292t1:c.4214_4215delinsTA	NP_009225.1:p.Ile1405=
NM_007297.3:c.4073_4074delinsTA	NP_009228.2:p.Ile1358=
NM_007298.3:c.905_906delinsTA	NP_009229.2:p.Ile302=
NM_007299.3:c.905_906delinsTA	NP_009230.2:p.Ile302=
NM_007300.3:c.4214_4215delinsTA	NP_009231.2:p.Ile1405=
NR_027676.1:n.4350_4351delinsTA
NM_007294.4:c.4214_4215delinsTA MANE Select	NP_009225.1:p.Ile1405=
NM_007297.4:c.4073_4074delinsTA	NP_009228.2:p.Ile1358=
NM_007299.4:c.905_906delinsTA	NP_009230.2:p.Ile302=
NM_007300.4:c.4214_4215delinsTA	NP_009231.2:p.Ile1405=
NR_027676.2:n.4391_4392delinsTA