Canonical Allele Identifier: CA645509504

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071236_43071237del , CM000679.2:g.43071236_43071237del	GRCh38
NC_000017.10:g.41223253_41223254del , CM000679.1:g.41223253_41223254del	GRCh37
NC_000017.9:g.38476779_38476780del	NCBI36
NG_005905.2:g.146748_146749del , LRG_292:g.146748_146749del

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4678_4679del MANE Select	NP_009225.1:p.Gly1560AsnfsTer13
ENST00000357654.9:c.4678_4679del MANE Select	ENSP00000350283.3:p.Gly1560AsnfsTer13
NM_007294.3:c.4678_4679del , LRG_292t1:c.4678_4679del	NP_009225.1:p.Gly1560AsnfsTer13
NM_007297.3:c.4537_4538del	NP_009228.2:p.Gly1513AsnfsTer13
NM_007297.4:c.4537_4538del	NP_009228.2:p.Gly1513AsnfsTer13
NM_007298.3:c.1366_1367del	NP_009229.2:p.Gly456AsnfsTer13
NM_007299.3:c.1366_1367del	NP_009230.2:p.Gly456AsnfsTer13
NM_007299.4:c.1366_1367del	NP_009230.2:p.Gly456AsnfsTer13
NM_007300.3:c.4741_4742del	NP_009231.2:p.Gly1581AsnfsTer13
NM_007300.4:c.4741_4742del	NP_009231.2:p.Gly1581AsnfsTer13
NR_027676.1:n.4814_4815del
NR_027676.2:n.4855_4856del
ENST00000352993.7:c.1252_1253del	ENSP00000312236.5:p.Gly418AsnfsTer13
ENST00000357654.7:c.4678_4679del	ENSP00000350283.3:p.Gly1560AsnfsTer13
ENST00000461221.5:c.*4461_*4462del	ENSP00000418548.1:n.*4461_*4462del
ENST00000461574.2:c.4675_4676del	ENSP00000417241.2:p.Gly1559AsnfsTer13
ENST00000468300.5:c.1366_1367del	ENSP00000417148.1:p.Gly456AsnfsTer13
ENST00000470026.6:c.4678_4679del	ENSP00000419274.2:p.Gly1560AsnfsTer13
ENST00000471181.6:c.4741_4742del	ENSP00000418960.2:p.Gly1581AsnfsTer13
ENST00000471181.7:c.4741_4742del	ENSP00000418960.2:p.Gly1581AsnfsTer13
ENST00000473961.6:c.4552_4553del	ENSP00000420201.2:p.Gly1518AsnfsTer13
ENST00000476777.6:c.4672_4673del	ENSP00000417554.2:p.Gly1558AsnfsTer13
ENST00000477152.6:c.4600_4601del	ENSP00000419988.2:p.Gly1534AsnfsTer13
ENST00000478531.5:c.1366_1367del	ENSP00000420412.1:p.Gly456AsnfsTer13
ENST00000478531.6:c.1366_1367del	ENSP00000420412.2:p.Gly456AsnfsTer13
ENST00000484087.5:c.991_992del	ENSP00000419481.1:p.Gly331AsnfsTer13
ENST00000484087.6:c.1240_1241del	ENSP00000419481.2:p.Gly414AsnfsTer13
ENST00000489037.2:c.4600_4601del	ENSP00000420781.2:p.Gly1534AsnfsTer13
ENST00000491747.6:c.1366_1367del	ENSP00000420705.2:p.Gly456AsnfsTer13
ENST00000493795.5:c.4537_4538del	ENSP00000418775.1:p.Gly1513AsnfsTer13
ENST00000493919.5:c.1228_1229del	ENSP00000418819.1:p.Gly410AsnfsTer13
ENST00000493919.6:c.1228_1229del	ENSP00000418819.2:p.Gly410AsnfsTer13
ENST00000494123.6:c.4678_4679del	ENSP00000419103.2:p.Gly1560AsnfsTer13
ENST00000497488.2:c.3790_3791del	ENSP00000418986.2:p.Gly1264AsnfsTer13
ENST00000586385.5:c.5-7285_5-7284del	ENSP00000465818.1:n.5-7285_5-7284del
ENST00000591534.5:c.151_152del	ENSP00000467329.1:p.Gly51AsnfsTer13
ENST00000591849.5:c.-98-21046_-98-21045del	ENSP00000465347.1:n.-98-21046_-98-21045del
ENST00000618469.2:c.4678_4679del	ENSP00000478114.2:p.Gly1560AsnfsTer13
ENST00000634433.2:c.4555_4556del	ENSP00000489431.2:p.Gly1519AsnfsTer13
ENST00000644379.1:c.1065_1066del
ENST00000644379.2:c.4744_4745del	ENSP00000496570.2:p.Gly1582AsnfsTer13
ENST00000644555.2:c.1228_1229del	ENSP00000494614.2:p.Gly410AsnfsTer13
ENST00000652672.2:c.4537_4538del	ENSP00000498906.2:p.Gly1513AsnfsTer13
ENST00000700182.1:c.1285_1286del	ENSP00000514849.1:p.Gly429AsnfsTer13